ClinVar Miner

Submissions for variant NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139381 SCV003823833 uncertain significance Spinocerebellar ataxia, autosomal recessive 26 2019-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246088 SCV004979785 uncertain significance not specified 2021-10-22 criteria provided, single submitter clinical testing The c.352C>T (p.R118W) alteration is located in exon 4 (coding exon 4) of the XRCC1 gene. This alteration results from a C to T substitution at nucleotide position 352, causing the arginine (R) at amino acid position 118 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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