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
Modifications to the list of pathogenic and likely pathogenic RYR1 variants
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
