ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys)

gnomAD frequency: 0.00001  dbSNP: rs954500638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850401 SCV000992598 uncertain significance Intellectual disability, autosomal dominant 56 2018-10-23 criteria provided, single submitter research
Invitae RCV001858468 SCV002249714 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing 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. 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 689651). This variant has not been reported in the literature in individuals affected with CLTC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 403 of the CLTC protein (p.Arg403Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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