ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)

dbSNP: rs875989810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674902 SCV000800313 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001061726 SCV001226479 pathogenic not provided 2022-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 225905). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 27186691). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu215*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252).
Fulgent Genetics, Fulgent Genetics RCV005044434 SCV005681657 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2024-06-12 criteria provided, single submitter clinical testing
OMIM RCV000211122 SCV000268077 pathogenic Premature ovarian failure 11 2020-05-27 no assertion criteria provided literature only

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