ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.50G>C (p.Gly17Ala)

gnomAD frequency: 0.00001  dbSNP: rs1846842565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897944 SCV002159819 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-01-27 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1389481). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 17 of the BAG3 protein (p.Gly17Ala).

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