ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.13C>T (p.Pro5Ser) (rs745921838)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186765 SCV000240333 uncertain significance not provided 2014-10-06 criteria provided, single submitter clinical testing p.Pro5Ser (CCT>TCT): c.13 C>T in exon 1 of the ALDH7A1 gene (NM_001182.4). The P5S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 2,300 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 P5S 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, this substitution occurs at a position that is not conserved across species, and Serine is observed at this position in other species. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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