ClinVar Miner

Submissions for variant NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) (rs886048361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288705 SCV000372225 uncertain significance Xeroderma pigmentosum, group E 2017-04-27 criteria provided, single submitter clinical testing The DDB2 c.914C>A (p.Thr305Asn) missense variant has been reported in one study in which it was identified in a homozygous state in one of four individuals diagnosed with xeroderma pigmentosum (Oh et al. 2011). Family studies revealed that the patient's parents and unaffected brother were heterozygous for the variant. Control data are not available for this variant which is reported at a frequency of 0.000099 in the Ashkenazi Jewish population of the Genome Aggregation Database, although this is based on only one allele in a region of good sequence coverage so the variant is presumed to be rare. The evidence for this variant is limited. The p.Thr305Asn variant is therefore classified as a variant of unknown significance, but suspicious for pathogenicity for xeroderma pigmentosum. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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