ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.793-2A>G

dbSNP: rs2032155264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212995 SCV001384608 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2019-08-15 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of Fanconi anemia and xeroderma pigmentosum (PMID: 29325523). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29325523). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). For these reasons, this variant has been classified as Pathogenic. This sequence change affects an acceptor splice site in intron 4 of the ERCC4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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