ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)

gnomAD frequency: 0.00001  dbSNP: rs777176261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000754843 SCV000930062 likely pathogenic Myopathy, centronuclear, 2 2019-01-08 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Myopathy, centronuclear, 2 autosomal recessive. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM1 : Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation. PP1-Strong : PP1 (segregation data) upgraded in strength to Strong (PMID:29950440).
Invitae RCV000754843 SCV003786394 pathogenic Myopathy, centronuclear, 2 2021-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 617681). This missense change has been observed in individuals with autosomal recessive centronuclear myopathy (PMID: 29950440). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs777176261, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 234 of the BIN1 protein (p.Arg234Cys).
OMIM RCV000754843 SCV000882723 pathogenic Myopathy, centronuclear, 2 2019-02-08 no assertion criteria provided literature only

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