ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) (rs796052496)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187504 SCV000241098 likely pathogenic not provided 2016-11-04 criteria provided, single submitter clinical testing The Thr295Ile missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Thr295Ile in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a polar Threonine residue with a non-polar Isoleucine residue. Thr295Ile alters a highly conserved position in the second transmembrane domain of the GABRA1 protein and another missense variant at a nearby codon (Thr294Ile) has been reported as a de novo variant in an individual with epilepsy. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, the Thr295Ile variant is a strong candidate for a pathogenic variant, although the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).
Institute of Human Genetics, University of Leipzig Medical Center RCV001253629 SCV001429456 likely pathogenic Epileptic encephalopathy, early infantile, 19 2018-08-20 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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