ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.108G>T (p.Gln36His) (rs779736481)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186756 SCV000240323 uncertain significance not provided 2012-10-01 criteria provided, single submitter clinical testing p.Gln36His (CAG>CAT):c.108 G>T in exon 1 of the ALDH7A1 gene (NM_001182.3). The Gln36His 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 Gln36His 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 non-conservative, as an uncharged Glutamine residue is replaced by a positively charged Histidine residue. However, Gln36His alters a position that is not highly conserved, and missense mutations have not been previously reported in this region of the protein. One in silico algorithm predicts Gln36His may be damaging to protein structure/function while other models predict it may be benign. Therefore, based on the currently available information, it is unclear whether Gln36His is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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