ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.191_202dup (p.62_63GS[5])

dbSNP: rs781081834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840076 SCV000981991 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000840076 SCV004269152 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 680321). This variant has not been reported in the literature in individuals affected with KCNQ4-related conditions. This variant is present in population databases (rs781081834, gnomAD 0.09%). This variant, c.191_202dup, results in the insertion of 4 amino acid(s) of the KCNQ4 protein (p.Gly64_Ser67dup), but otherwise preserves the integrity of the reading frame.

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