ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val) (rs201977531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186795 SCV000240364 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing p.Ile631Val (I631V) ATA>GTA: c.1891 A>G in exon 14 of the ATP1A2 gene (NM_000702.3). The I631V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I631V variant is observed in 2/15304 (0.01%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The I631V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000186795 SCV000840974 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing

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