ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe)

dbSNP: rs1064793392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478609 SCV000565999 likely pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the transmembrane segment S3; This variant is associated with the following publications: (PMID: 35982159, 33057194)
Illumina Laboratory Services, Illumina RCV001563652 SCV001786639 likely pathogenic KCNQ2-related disorder 2021-03-11 criteria provided, single submitter clinical testing The KCNQ2 c.506G>T (p.Cys169Phe) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. The p.Cys169Phe variant lies within a helical transmembrane domain and multiple in silico analysis tools predict this variant to be disruptive to the protein. Based on the identification of the variant in a de novo state, its rarity, and application of the ACMG criteria, the p.Cys169Phe variant is classified as likely pathogenic for KCNQ2-related disorders.

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