ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) (rs9514067)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190581 SCV000245604 likely pathogenic Xeroderma pigmentosum, group G 2014-12-15 criteria provided, single submitter clinical testing The Arg1080X variant in ERCC5 has not been reported in the literature or in large population studies. This nonsense variant leads to a premature termination codon at position 1080, which is predicted to lead to either a truncated protein lacking the last 106 amino acids or absent protein. A mouse model with a homozygous deletion of the last 183 amino acids of the ERCC5 protein has normal life span and no particular growth abnormalities; however fibroblasts isolated from the mouse are moderately UV-light sensitive, suggesting that this deletion may impact protein function (Shiomi 2004). In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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