ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1441G>T (p.Val481Leu) (rs796052264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186748 SCV000240315 uncertain significance not provided 2013-03-14 criteria provided, single submitter clinical testing p.Val481Leu (GTA>TTA): c.1441 G>T in exon 16 of the ALDH7A1 gene (NM_001182.3). The Val481Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Val481Leu in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Valine and Leucine are both uncharged, non-polar amino acids. However, it alters a highly conserved position on the protein, and multiple in silico algorithms predict it may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Val481Leu is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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