Submissions for variant NM_005609.4(PYGM):c.330C>T (p.Asp110=)

gnomAD frequency: 0.00189  dbSNP: rs114742918

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000344345	SCV000373039	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	RCV000509222	SCV000522348	likely benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000443441	SCV000706937	likely benign	not specified	2017-03-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000344345	SCV001116097	likely benign	Glycogen storage disease, type V	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000509222	SCV001500469	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PYGM: BP4, BP7, BS2
GenomeConnect, ClinGen	RCV000509222	SCV000607360	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc.	RCV000344345	SCV001454304	likely benign	Glycogen storage disease, type V	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957578	SCV004769175	likely benign	PYGM-related disorder	2021-08-09	no assertion criteria provided	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).