ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1416C>T (p.Val472=)

gnomAD frequency: 0.00222  dbSNP: rs139687326
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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) RCV000081483 SCV000113414 benign not specified 2013-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891563 SCV000311733 likely benign POMT1-related condition 2019-06-11 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).
Illumina Laboratory Services, Illumina RCV000302685 SCV000477665 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K 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.
GeneDx RCV001697139 SCV000526495 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081483 SCV000596535 likely benign not specified 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000537255 SCV000649875 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing

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