ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.700A>C (p.Asn234His)

gnomAD frequency: 0.00002  dbSNP: rs368218302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238122 SCV002009692 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541035 SCV003482148 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-03-10 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ERCC4 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. ClinVar contains an entry for this variant (Variation ID: 1319876). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs368218302, gnomAD 0.004%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 234 of the ERCC4 protein (p.Asn234His).

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