ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.924C>T (p.Ile308=)

gnomAD frequency: 0.00175  dbSNP: rs139726186
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724693 SCV000232688 uncertain significance not provided 2015-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000252449 SCV000311180 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275037 SCV000373029 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000275037 SCV000752187 likely benign Glycogen storage disease, type V 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000275037 SCV001653466 likely benign Glycogen storage disease, type V 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724693 SCV001747000 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PYGM: BP4, BP7
GeneDx RCV000724693 SCV001783752 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000275037 SCV002092333 benign Glycogen storage disease, type V 2019-10-22 no assertion criteria provided clinical testing

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