ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) (rs543181020)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186730 SCV000240297 uncertain significance not provided 2015-01-21 criteria provided, single submitter clinical testing p.Thr67Met (ACG>ATG):c.200 C>T in exon 2 of the ALDH7A1 gene (NM_001182.3). The Thr67Met 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 Thr67Met in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is non-conservative, as a polar Threonine residue is replaced by a non-polar Methionine residue. Thr67Met alters a conserved position in the protein, although a Methionine residue is observed at this position in another species. Multiple in silico algorithms predict that Thr67Met may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Thr67Met is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Invitae RCV000549367 SCV000640317 likely benign Pyridoxine-dependent epilepsy 2017-09-11 criteria provided, single submitter clinical testing

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