Submissions for variant NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)

gnomAD frequency: 0.00243  dbSNP: rs145040928

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001079312	SCV000884301	likely benign	Glycogen storage disease, type VII	2023-03-29	criteria provided, single submitter	clinical testing
Invitae	RCV001079312	SCV001023118	likely benign	Glycogen storage disease, type VII	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079312	SCV001267905	likely benign	Glycogen storage disease, type VII	2017-05-08	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000756472	SCV001825254	likely benign	not provided	2021-08-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756472	SCV004698390	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PFKM: BS2
PreventionGenetics, part of Exact Sciences	RCV003938135	SCV004752109	likely benign	PFKM-related condition	2020-07-28	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).