ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002292249 SCV002584738 uncertain significance Xeroderma pigmentosum, group F 2022-07-13 criteria provided, single submitter clinical testing The ERCC4 c.1793G>A (p.Arg598Lys) missense change has a maximum subpopulation frequency of 0.0050% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV003289502 SCV004008907 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.1793G>A (p.R598K) alteration is located in exon 8 (coding exon 8) of the ERCC4 gene. This alteration results from a G to A substitution at nucleotide position 1793, causing the arginine (R) at amino acid position 598 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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