ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)

gnomAD frequency: 0.00027  dbSNP: rs74067815
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Total submissions: 5
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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 RCV000038598 SCV000062276 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile718Ile in exon 16 of ABCC9: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.1% (3/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs74067815). Ile718Ile in exon 1 6 of ABCC9 (rs74067815; allele frequency=0.1%, 3/3738) **
GeneDx RCV000038598 SCV000520526 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000466054 SCV000561910 likely benign Dilated cardiomyopathy 1O 2025-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038598 SCV002500514 benign not specified 2022-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426570 SCV002727019 likely benign Cardiovascular phenotype 2019-03-04 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.

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