ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1A>T (p.Met1Leu)

dbSNP: rs763678756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671101 SCV000796046 likely pathogenic Xeroderma pigmentosum, group C 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669168 SCV004391097 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that disruption of the initiator codon affects XPC function (PMID: 18955168). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 555303). Disruption of the initiator codon has been observed in individual(s) with xeroderma pigmentosum (PMID: 18955165). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects the initiator methionine of the XPC mRNA. The next in-frame methionine is located at codon 118.

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