ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1832-3C>G

dbSNP: rs1971859134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292783 SCV001481435 uncertain significance Trichothiodystrophy 1, photosensitive 2019-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863173 SCV002256910 uncertain significance not provided 2021-05-10 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the ERCC2 gene. It does not directly change the encoded amino acid sequence of the ERCC2 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC2-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002259100 SCV002531571 uncertain significance Xeroderma pigmentosum 2021-10-22 criteria provided, single submitter curation

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