ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu)

dbSNP: rs1057516082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657886 SCV000779649 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing This V175L variant in this individual has been reported as a de novo change in association with myoclonic epilepsy which progressed to West syndrome (Samanta et al., 2015). The V175L variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A different nucleotide substitution resulting in the same amino acid change (c.523 G>T) has been reported as a de novo variant in an individual with early onset epileptic encephalopathy (Milh et al., 2013). The V175L variant is predicted to be within the transmembrane segment S3.
GeneReviews RCV000678123 SCV000484559 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only Infantile spasms

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