ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)

gnomAD frequency: 0.00001  dbSNP: rs377562755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060645 SCV001225349 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 845 of the ERCC4 protein (p.Asn845Ser). This variant is present in population databases (rs377562755, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. ClinVar contains an entry for this variant (Variation ID: 855385). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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.
Ambry Genetics RCV002554430 SCV003561067 uncertain significance Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing The c.2534A>G (p.N845S) alteration is located in exon 11 (coding exon 11) of the ERCC4 gene. This alteration results from a A to G substitution at nucleotide position 2534, causing the asparagine (N) at amino acid position 845 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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