ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) (rs1554780631)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521097 SCV000617966 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing The V1066A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1066A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. However, the V1066A variant is not observed in large population cohorts (Lek et al., 2016). 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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