ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) (rs61736659)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723589 SCV000113228 uncertain significance not provided 2013-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000723589 SCV000565455 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25914343)
Fulgent Genetics,Fulgent Genetics RCV000763760 SCV000894649 uncertain significance Glycogen storage disease, type V 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763760 SCV001027702 benign Glycogen storage disease, type V 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000763760 SCV001265431 benign Glycogen storage disease, type V 2017-07-16 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV000763760 SCV001452650 benign Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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