ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)

dbSNP: rs727503840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173304 SCV001997299 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001850087 SCV002278418 uncertain significance Intellectual disability, CASK-related, X-linked 2020-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 19 of the CASK protein (p.Gly19Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CASK-related conditions. ClinVar contains an entry for this variant (Variation ID: 166796). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000173304 SCV000224403 likely pathogenic not provided 2014-04-01 flagged submission clinical testing

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