Submissions for variant NM_005609.4(PYGM):c.924C>T (p.Ile308=)

gnomAD frequency: 0.00175  dbSNP: rs139726186

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724693	SCV000232688	uncertain significance	not provided	2015-03-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000252449	SCV000311180	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000275037	SCV000373029	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.
Invitae	RCV000275037	SCV000752187	likely benign	Glycogen storage disease, type V	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000275037	SCV001653466	likely benign	Glycogen storage disease, type V	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724693	SCV001747000	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PYGM: BP4, BP7
GeneDx	RCV000724693	SCV001783752	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000275037	SCV002092333	benign	Glycogen storage disease, type V	2019-10-22	no assertion criteria provided	clinical testing