ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1308-2A>G

gnomAD frequency: 0.00001  dbSNP: rs766369300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021331 SCV002313635 likely pathogenic not provided 2024-09-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the ERCC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ERCC2 are known to be pathogenic (PMID: 9238033, 11335038, 19085937, 19934020). This variant is present in population databases (rs766369300, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ERCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1517863). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003471277 SCV004194623 likely pathogenic Cerebrooculofacioskeletal syndrome 2 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017086 SCV005648407 likely pathogenic Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2024-06-20 criteria provided, single submitter clinical testing

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