Submissions for variant NM_005609.4(PYGM):c.1083C>T (p.Asp361=)

gnomAD frequency: 0.00062  dbSNP: rs141959242

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725611	SCV000338143	uncertain significance	not provided	2017-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310215	SCV000373027	uncertain significance	Glycogen storage disease, type V	2018-01-13	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.
GeneDx	RCV000407094	SCV000514331	likely benign	not specified	2016-11-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000310215	SCV001116494	benign	Glycogen storage disease, type V	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920093	SCV004736339	likely benign	PYGM-related condition	2019-03-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000310215	SCV002092330	likely benign	Glycogen storage disease, type V	2020-01-31	no assertion criteria provided	clinical testing