ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.915del (p.Asn308fs)

dbSNP: rs772432152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350484 SCV000342951 likely pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855213 SCV002161290 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2020-11-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ERCC4-related conditions. ClinVar contains an entry for this variant (Variation ID: 288748). This variant is present in population databases (rs772432152, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Asn308Ilefs*6) 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).
Fulgent Genetics, Fulgent Genetics RCV005016680 SCV005645242 likely pathogenic Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 2024-01-22 criteria provided, single submitter clinical testing

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