ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.460T>C (p.Cys154Arg) (rs1057520885)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422037 SCV000519071 uncertain significance not provided 2018-01-17 criteria provided, single submitter clinical testing The C154R variant in the ALDH7A1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C154R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C154R variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C154R as a variant of uncertain significance.

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