ClinVar Miner

Submissions for variant NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003316896 SCV004015300 likely pathogenic Spinocerebellar ataxia, autosomal recessive 26 2023-07-20 criteria provided, single submitter clinical testing The c.1015C>T variant is not present in 1000 Genome, EVS, Indian Exome Database or our in-house exome database. The variant is present in ExAC and gnomAD at low frequencies. This variant has neither been published in literature for XRCC1-related conditions nor reported to any clinical databases, in any affected individuals. In silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. This variant creates a premature translational stop signal at the 339th amino acid position of the wild-type transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA. This variant has been identified as a part of an extended carrier screening in a couple.

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