ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)

gnomAD frequency: 0.00001  dbSNP: rs397509404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001646986 SCV001519130 pathogenic Spastic ataxia 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001853034 SCV002236308 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2020-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr577*) 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 (rs747759202, ExAC 0.006%). This variant has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 23623389). ClinVar contains an entry for this variant (Variation ID: 55828). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000049249 SCV000077502 pathogenic Xeroderma pigmentosum, type F/Cockayne syndrome 2013-05-02 no assertion criteria provided literature only

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