ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988755 SCV004804993 likely pathogenic Xeroderma pigmentosum, group G 2024-03-17 criteria provided, single submitter research
GeneDx RCV004780694 SCV005391660 pathogenic not provided 2024-05-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27391121, 31395954, 35988656, 36403551)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798985 SCV005420396 likely pathogenic Xeroderma pigmentosum 2024-10-04 criteria provided, single submitter research PVS1,PM2

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