ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.206A>G (p.Tyr69Cys) (rs796052258)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186732 SCV000240299 uncertain significance not provided 2013-09-06 criteria provided, single submitter clinical testing p.Tyr69Cys (TAT>TGT): c.206 A>G in exon 2 of the ALDH7A1 gene (NM_001182.3). The Tyr69Cys missense change 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although both Tyrosine and Cysteine are uncharged, polar amino acid residues, the gain of a Cysteine may affect the formation of disulfide bonds in the protein. Tyr69Cys alters a highly conserved position in the NAD-binding domain of the ALDH7A1 protein. However, in silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Tyr69Cys is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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