ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser) (rs370869432)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432711 SCV000527731 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALDH7A1 gene. The P365S variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The P365S variant was not observed with any significant frequency in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject. The P365S variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties.However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistentin its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.

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