ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2312C>T (p.Thr771Ile) (rs180739851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765079 SCV000896284 uncertain significance Hypertrichotic osteochondrodysplasia; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000658420 SCV000780192 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing The T771I variant of uncertain significance in the ABCC9 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 7/33,466 alleles from individuals of Latino ancestry in large population cohorts (Lek et al., 2016). The T771I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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