ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.4512+765C>T

gnomAD frequency: 0.00016  dbSNP: rs142875103
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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 RCV000215884 SCV000271484 uncertain significance not specified 2015-09-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro1531Ser va riant in ABCC9 has not been previously reported in individuals with cardiomyopat hy, but has been identified in 6/10386 of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142875103). Pro line (Pro) at position 1531 is not conserved in mammals or evolutionarily distan t species and >15 birds and reptiles carry a serine (Ser) at this position, rais ing the possibility that this change may be tolerated. In summary, while the cli nical significance of the p.Pro1531Ser variant is uncertain, these data suggest that it is more likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000474358 SCV000551691 likely benign Dilated cardiomyopathy 1O 2024-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001551013 SCV001771428 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing Identified in a patient with DCM in published literature (PMID: 31983221); In silico analysis supports that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics RCV002338678 SCV002638617 likely benign Cardiovascular phenotype 2023-05-23 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.
Fulgent Genetics, Fulgent Genetics RCV002500706 SCV002796954 uncertain significance Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 2021-10-29 criteria provided, single submitter clinical testing

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