ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.536T>C (p.Ile179Thr) (rs763217060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186724 SCV000240291 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing p.Ile179Thr (ATT>ACT): c.536 T>C in exon 6 of the ALDH7A1 gene (NM_001182.3). The Ile179Thr 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 Ile179Thr 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-consevative, as a non-polar Isoleucine residue is replaced by a polar Threonine residue. It alters a conserved position in the protein, and other missense mutations have been reported at nearby codons. Additionally, multiple in silico algorithms predict that Ile179Thr may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Ile179Thr is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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