ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.182G>A (p.Arg61His)

gnomAD frequency: 0.00058  dbSNP: rs145514333
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173380 SCV000224485 benign not specified 2018-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000664912 SCV000788945 likely benign Glycogen storage disease, type V 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000828466 SCV000970157 benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000664912 SCV001027580 benign Glycogen storage disease, type V 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000664912 SCV001261950 uncertain significance Glycogen storage disease, type V 2018-01-12 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.
Natera, Inc. RCV000664912 SCV001457731 benign Glycogen storage disease, type V 2020-05-20 no assertion criteria provided clinical testing

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