ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology RCV001030756 SCV001189951 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2020-02-26 criteria provided, single submitter clinical testing The c.3113_3114del variant is not present in publicly available databases like1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in our in-house exome database. The variant was not reported earlier to OMIM, ClinVar or HGMD databases. The variant causes a frameshift at 1038 amino acid position that creates stop codon at 1048 amino acid position of the altered transcript that may either cause nonsense mediated decay of the mRNA resulting no protein or a truncated protein due to premature stop codon. In-silico pathogenicity prediction programs MutationTaster2, CADD, Intervar etc. predicted this variant to be likely deleterious. The variant has been classified as likely pathogenic as per ACMG guidelines.

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