ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)

dbSNP: rs1343231277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959992 SCV002210500 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1432977). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln251*) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357).
Fulgent Genetics, Fulgent Genetics RCV001959992 SCV005672316 likely pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-05-29 criteria provided, single submitter clinical testing

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