ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)

gnomAD frequency: 0.00446  dbSNP: rs113806080
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175189 SCV000226631 likely benign not specified 2014-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001091629 SCV000521104 benign not provided 2019-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503134, 20108426, 33111339)
Invitae RCV000988570 SCV001096492 benign Glycogen storage disease, type V 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000988570 SCV001138340 benign Glycogen storage disease, type V 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091629 SCV001247780 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PYGM: PP3, BS2
Illumina Laboratory Services, Illumina RCV000988570 SCV001265430 likely benign Glycogen storage disease, type V 2017-04-27 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.
Genetic Services Laboratory, University of Chicago RCV000175189 SCV002065501 likely benign not specified 2019-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000988570 SCV002800477 likely benign Glycogen storage disease, type V 2021-12-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000988570 SCV004562169 benign Glycogen storage disease, type V 2023-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977428 SCV004799351 likely benign PYGM-related condition 2019-11-22 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. RCV000988570 SCV001452649 benign Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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