ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) (rs756112023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658230 SCV000780001 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The C725S variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 2/66338 (0.003%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The C725S variant is a non-conservative amino acidsubstitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658230 SCV001155846 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing

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