ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) (rs121434570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587956 SCV000695421 pathogenic Xeroderma pigmentosum 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The ERCC5 c.2878G>T (p.Glu960X) variant results in a premature termination codon, predicted to cause a truncated or absent ERCC5 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 1/120768 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic ERCC5 variant (0.0007071). A publication cites the variant in an affected compound heterozygote individual. A functional study, Nouspikel_1994, indicates that the variant is extremely UV sensitive at higher does. In addition, a reputable database classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000018034 SCV000038313 pathogenic Xeroderma pigmentosum, group G 1994-06-01 no assertion criteria provided literature only

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