ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.342_343del (p.Ala116fs)

dbSNP: rs1228981894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668532 SCV000793151 pathogenic Xeroderma pigmentosum, group C 2017-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532475 SCV001748054 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001532475 SCV002231025 pathogenic not provided 2023-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553148). This sequence change creates a premature translational stop signal (p.Ala116Tyrfs*4) in the XPC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XPC are known to be pathogenic (PMID: 23173980, 25256075). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with xeroderma pigmentosum (PMID: 23173980).
Baylor Genetics RCV000668532 SCV005055912 pathogenic Xeroderma pigmentosum, group C 2023-12-26 criteria provided, single submitter clinical testing

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