Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
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. |
| Invitae | RCV003556039 | SCV004296521 | pathogenic | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu960*) in the ERCC5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC5 are known to be pathogenic (PMID: 23370536, 24700531, 30919937). This variant is present in population databases (rs121434570, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Xeroderma pigmentosum (PMID: 7951246). ClinVar contains an entry for this variant (Variation ID: 16566). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000018034 | SCV000038313 | pathogenic | Xeroderma pigmentosum, group G | 1994-06-01 | no assertion criteria provided | literature only |