ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)

gnomAD frequency: 0.00004  dbSNP: rs758565772
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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 RCV002549246 SCV003491118 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-01-12 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 expected to disrupt ERCC4 protein function. ClinVar contains an entry for this variant (Variation ID: 813583). This missense change has been observed in individual(s) with pancreatic cancer (PMID: 28767289). This variant is present in population databases (rs758565772, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 740 of the ERCC4 protein (p.Arg740His).
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252767 SCV001163910 uncertain significance Microcephaly no assertion criteria provided research

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