ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp)

dbSNP: rs1554788393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664690 SCV000788692 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2018-03-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689831 SCV005184735 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing Variant summary: ERCC6 c.2038A>G (p.Asn680Asp) results in a conservative amino acid change located in the Helicase superfamily 1/2, ATP-binding domain (IPR014001) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251396 control chromosomes. c.2038A>G has been reported in the literature in individuals affected with Cockayne Syndrome (Laugel_2010, Calmels_2018). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The DNA translocase activity of the orthologous variant in yeast was approximately 10%-<30% of the normal protein, measured by an in vitro yeast chromatin remodeling assay (Yan_2021). The following publications have been ascertained in the context of this evaluation (PMID: 29572252, 19894250, 34853308). ClinVar contains an entry for this variant (Variation ID: 550065). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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