Submissions for variant NM_005609.4(PYGM):c.540C>T (p.Ala180=)

gnomAD frequency: 0.00009  dbSNP: rs148731983

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241581	SCV000311175	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000882322	SCV001025553	likely benign	Glycogen storage disease, type V	2024-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000882322	SCV001259841	uncertain significance	Glycogen storage disease, type V	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.