Submissions for variant NM_005236.3(ERCC4):c.580_584+1del

dbSNP: rs776329282

Total submissions: 3

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	2024-01-09	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. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). This variant is present in population databases (rs776329282, gnomAD 0.02%). This variant has been observed in individual(s) with clinical features of xeroderma pigmentosum-F (PMID: 28431612). ClinVar contains an entry for this variant (Variation ID: 840550). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001531225	SCV001746241	likely pathogenic	not provided	2021-04-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001819754	SCV002071179	uncertain significance	not specified	2019-09-23	criteria provided, single submitter	clinical testing