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

Total submissions: 2

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	2020-05-20	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 clinical features of xeroderma pigmentosum-F (PMID: 28431612). ClinVar contains an entry for this variant (Variation ID: 840550). 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV001531225	SCV001746241	likely pathogenic	not provided	2021-04-01	criteria provided, single submitter	clinical testing