ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.280C>T (p.Leu94Phe)

dbSNP: rs950102855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443378 SCV000530732 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATP1A2 gene. The L94F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L94F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably 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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