New variants, new classification

New variant:
c.1390C>A; p.(Gln464Lys); NM_000540.3(RYR1):c.5132A>G p.(Gln464Lys)
EMHG pathogenic, VCEP: likely pathogenic

Updated variant:
c.7060G>A; p.(Val2354Met): EMHG changed from VUS to pathogenic
c.7292A>T; p.(Asp2431Val): EMHG changed from VUS to pathogenic
c.7879G>C; p.(Val2627Leu): EMHG changed from VUS to pathogenic
c.8189A>G; p.(Asp2730Gly): EMHG changed from VUS to likely pathogenic
c.14918C>T; p.(Pro4973Leu): EMHG changed from likely pathogenic to pathogenic 

New variants

The following pathogenic variants have been added:

• c.1024G>A; p.(Glu342Lys); Pathogenic; criteria: PSb, PPa,PPb,PPc

• c.6863T>C; p.(Leu2288Ser); Pathogenic; criteria: PSb,PPb,PPc
  
  

New variants

The following new likely pathogenic or pathogenic variants in RYR1 have been added:

• c.1589G>A    p.(Arg530His)

• c.5132A>G    p.(Tyr1711Cys)

• c.6488G>T    p.(Arg2163Leu)

• c.6838G>A    p.(Val2280Ile)

• c.8638G>A    p.(Glu2880Lys)

• c.11416G>A   p.(Gly3806Arg)

• c.14813T>C   p.(Ile4938Thr)

Variant c.14582G>A   p.(Arg4861His) has been downgraded from pathogenic to likely pathogenic

In 2023 the variant  c.1630G>T  p.(Asp544Tyr) has been downgraded from likely pathogenic to VUS