ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)

dbSNP: rs1342267719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672557 SCV000797670 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532129 SCV002945226 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing This variant, c.3114_3116del, results in the deletion of 1 amino acid(s) of the ERCC6 protein (p.Arg1039del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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