ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)

dbSNP: rs2132552521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003555889 SCV004294363 pathogenic not provided 2023-03-02 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: 1705). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 10196384). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr659Cysfs*24) 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 RCV005041967 SCV005675118 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 2024-06-18 criteria provided, single submitter clinical testing
OMIM RCV000001774 SCV000021930 pathogenic Cockayne syndrome type 2 1999-05-01 no assertion criteria provided literature only

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