ClinVar Miner

Submissions for variant NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)

gnomAD frequency: 0.00001  dbSNP: rs796206315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001254696 SCV001430762 likely pathogenic Limb-girdle muscular dystrophy 2020-05-29 criteria provided, single submitter research The p.Arg88Ter variant in BVES was identified by our study in 1 homozygous individual with limb-girdle muscular dystrophy (PMID:31119192). Data from large population studies is insufficient to assess the frequency of this variant. This nonsense variant leads to a premature termination codon at position 88, which is predicted to lead to a truncated or absent protein. While there is some evidence to suggest that loss of function of the BVES gene is a disease mechanism in autosomal recessive limb girdle muscular dystrophy, this association is not yet strongly established based on the criteria laid out in Tayoun, 2018 (PMID: 30192042). In vitro functional studies provide some evidence that the p.Arg88Ter variant may slightly impact protein function (PMID:31119192). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PM3_supporting, PS3_moderate, PVS1_strong (Richards 2015).
GeneDx RCV003314643 SCV004014279 pathogenic not provided 2023-01-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35660068, 34940515, 27397505, 35718670, 31817925, 33310206, 32684383, 32528171, 31119192)
OMIM RCV000768555 SCV000899254 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X 2022-08-25 no assertion criteria provided literature only

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