ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) (rs34954751)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118032 SCV000152353 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000118032 SCV000171150 benign not specified 2014-03-21 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118032 SCV000269708 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg586Arg in exon 17 of POMT1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3.4% (291/8600) o f European American chromosomes by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/; dbSNP rs34954751).
PreventionGenetics,PreventionGenetics RCV000118032 SCV000311739 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000528768 SCV000649883 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712815 SCV000843349 benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166761 SCV001329167 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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). 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000118032 SCV001799166 benign not specified no assertion criteria provided clinical testing

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