ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)

gnomAD frequency: 0.00038  dbSNP: rs150096625
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Total submissions: 6
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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 RCV000154678 SCV000204356 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr400Thr in exon 8 of ABCC9: This variant is not expected to have clinical sign ificance 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 Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs150096625). Thr400Thr in exon 8 of ABCC9 (rs150096625; allele frequency = 0.1%, 1/3738) **
GeneDx RCV001719957 SCV000714322 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617899 SCV000735712 likely benign Cardiovascular phenotype 2016-12-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862430 SCV001002938 likely benign Dilated cardiomyopathy 1O 2023-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154678 SCV001362415 benign not specified 2019-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544409 SCV004769012 likely benign ABCC9-related disorder 2019-11-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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