ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2331dup (p.Asn778fs)

dbSNP: rs1553604552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671731 SCV000796741 likely pathogenic Xeroderma pigmentosum, group C 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532110 SCV003446904 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn778Glnfs*21) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with XPC-related conditions. ClinVar contains an entry for this variant (Variation ID: 555832). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000671731 SCV004047751 likely pathogenic Xeroderma pigmentosum, group C criteria provided, single submitter clinical testing The frameshift variant c.2331dup (p.Asn778GlnfsTer21) in XPC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Likely Pathogenic. The p.Asn778GlnfsTer21 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Asparagine 778, changes this amino acid to Glutamine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Asn778GlnfsTer21. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000671731 SCV004207008 likely pathogenic Xeroderma pigmentosum, group C 2023-03-11 criteria provided, single submitter clinical testing

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