ClinVar Miner

Submissions for variant NM_001290285.1(ERCC8):c.-83_-81delinsTG (rs1131691783)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493563 SCV000582828 pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing The c.295_297delAGAinsTG variant in the ERCC8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.295_297delAGAinsTG variant causes a frameshift starting with codon Arginine 99, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Arg99CysfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.295_297delAGAinsTG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.295_297delAGAinsTG as a pathogenic variant.
Invitae RCV000493563 SCV000936383 pathogenic not provided 2019-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg99Serfs*26) in the ERCC8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Cockayne syndrome type A (PMID: 26846091). ClinVar contains an entry for this variant (Variation ID: 430102). Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 19894250, 21108394). For these reasons, this variant has been classified as Pathogenic.
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles RCV000984170 SCV000998511 pathogenic Cockayne syndrome type A criteria provided, single submitter clinical testing
Counsyl RCV000984170 SCV001132183 likely pathogenic Cockayne syndrome type A 2017-12-15 no assertion criteria provided clinical testing

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