ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1914del (p.Arg637_Tyr638insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004790002 SCV005399165 pathogenic Cockayne syndrome type 2 2019-08-28 criteria provided, single submitter clinical testing A homozygous nonsense variant was identified, NM_000124.2(ERCC6):c.1914del in exon 9 of 21 of the ERCC6 gene. This nonsense variant is predicted to create a change of tyrosine to a stop at amino acid position 638 of the protein, NP_000115.1(ERCC6):p.(Tyr638*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. It has not been previously reported in clinical cases. Other variants predicted to cause NMD have been reported as pathogenic in individuals with this condition (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC.

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