ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)

dbSNP: rs1386369933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666791 SCV000791147 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386579 SCV001586842 pathogenic not provided 2020-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant has not been reported in the literature in individuals with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 551667). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1291Profs*40) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product.

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