ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)

gnomAD frequency: 0.00019  dbSNP: rs201229787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698889 SCV000827578 uncertain significance Charcot-Marie-Tooth disease type 2 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 267 of the BSCL2 protein (p.Arg267His). This variant is present in population databases (rs201229787, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 34190362). ClinVar contains an entry for this variant (Variation ID: 576407). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BSCL2 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002422548 SCV002679758 likely benign Inborn genetic diseases 2020-03-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV004723101 SCV005333388 uncertain significance not provided 2024-02-05 criteria provided, single submitter clinical testing Reported in an individual with Charcot-Marie-Tooth disease (PMID: 34190362); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34190362)

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