ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1105G>C (p.Ala369Pro)

dbSNP: rs772900053
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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 RCV001984520 SCV002216223 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-05-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 369 of the BAG3 protein (p.Ala369Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs772900053, ExAC 0.001%). This variant has not been reported in the literature in individuals with BAG3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.

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