ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1344C>T (p.Asp448=)

gnomAD frequency: 0.00001  dbSNP: rs727504796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156122 SCV000205836 likely benign not specified 2013-10-21 criteria provided, single submitter clinical testing Asp448Asp in exon 4 of BAG3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asp448Asp in exon 4 of BAG3 (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV003105801 SCV003782348 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019872 SCV005021768 likely benign Cardiovascular phenotype 2024-02-26 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000156122 SCV006066548 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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