ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) (rs140947675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678778 SCV000804957 uncertain significance Leukoencephalopathy 2016-10-06 no assertion criteria provided clinical testing
GeneDx RCV000431414 SCV000535102 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALDH7A1 gene. The A384T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A384T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A384T 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. This substitution occurs at a position that is conserved across species; however, Threonine is observed at this position in evolution. In silico analysis is inconsistent in 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 a pathogenic variant or a rare benign variant.

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