ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.341A>G (p.Tyr114Cys)

gnomAD frequency: 0.00001  dbSNP: rs769813479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788523 SCV000927672 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768473 SCV004580509 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-09-06 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BAG3 protein function. ClinVar contains an entry for this variant (Variation ID: 636634). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is present in population databases (rs769813479, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 114 of the BAG3 protein (p.Tyr114Cys).

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