ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.663dup (p.Met222fs)

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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 RCV003780144 SCV004603588 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-01-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change creates a premature translational stop signal (p.Met222Hisfs*23) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). This variant is present in population databases (rs758362908, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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