Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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. |