ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.207dup (p.Pro70fs)

dbSNP: rs1554794641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672932 SCV000798088 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2018-02-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172036 SCV001334965 likely pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001172036 SCV001592893 pathogenic not provided 2021-07-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556870). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro70Alafs*17) 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).

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