ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs)

dbSNP: rs1565731854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066918 SCV001231942 pathogenic Dilated cardiomyopathy 1O 2024-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met977Lysfs*11) in the ABCC9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC9 are known to be pathogenic (PMID: 31575858, 38217872). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ABCC9-related conditions. ClinVar contains an entry for this variant (Variation ID: 860588). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV002223985 SCV002502488 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333130 SCV004041039 uncertain significance Atrial fibrillation, familial, 12 2023-04-20 criteria provided, single submitter clinical testing

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