ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)

gnomAD frequency: 0.00004  dbSNP: rs746576915
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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 RCV000812059 SCV000952361 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-05-18 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERCC4 protein function. ClinVar contains an entry for this variant (Variation ID: 655804). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs746576915, gnomAD 0.1%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 808 of the ERCC4 protein (p.Ala808Gly).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153852 SCV003843419 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353046 SCV004077599 uncertain significance Inborn genetic diseases 2023-08-22 criteria provided, single submitter clinical testing The c.2423C>G (p.A808G) alteration is located in exon 11 (coding exon 11) of the ERCC4 gene. This alteration results from a C to G substitution at nucleotide position 2423, causing the alanine (A) at amino acid position 808 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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