Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042569 | SCV001206257 | likely pathogenic | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q | 2019-12-11 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 3 (c.580_584+1del) of the ERCC4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual with Xeroderma Pigmentosum-F with mild photo-sensitivity and cerebellar atrophy (PMID: 28431612). Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |