ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)

gnomAD frequency: 0.00005  dbSNP: rs373906926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543207 SCV000654060 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-03-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 709 of the ERCC4 protein (p.Val709Met). This variant is present in population databases (rs373906926, gnomAD 0.006%). This missense change has been observed in individual(s) with head and neck squamous cell carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 474203). 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: "Probably Damaging"; 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.
Genetic Services Laboratory, University of Chicago RCV001821616 SCV002067831 uncertain significance not specified 2019-11-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257837 SCV002537940 uncertain significance Xeroderma pigmentosum 2021-12-22 criteria provided, single submitter curation

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