ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)

gnomAD frequency: 0.00006  dbSNP: rs201894064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170372 SCV000222787 uncertain significance not specified 2013-10-22 criteria provided, single submitter clinical testing
Counsyl RCV000668823 SCV000793488 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516540 SCV003453473 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 612 of the ERCC6 protein (p.Arg612Gln). This variant is present in population databases (rs201894064, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 190154). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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