ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.7C>T (p.Arg3Cys) (rs796052265)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186751 SCV000240318 uncertain significance not provided 2013-04-24 criteria provided, single submitter clinical testing p.Arg3Cys (CGC>TGC): c.7 C>T in exon 1 of the ALDH7A1 gene (NM_001182.3). The Arg3Cys missense change in the ALDH7A1 gene 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 2,200 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 amino acid substitution is non-conservative as a positively charged Arginine residue is replaced by an uncharged Cysteine residue and the gain of a Cysteine may affect disulfide bond formation in the ALDH7A1 protein. Arg3Cys alters a position that is conserved in mammals but not in related proteins and other missense mutations have not been reported in this region of the protein. In addition, in-silico algorithms are not consistent in their predictions of whether Arg3Cys is damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Arg3Cys is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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