ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)

gnomAD frequency: 0.00001  dbSNP: rs778479250
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001837550 SCV002009194 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001837550 SCV002098244 pathogenic not provided 2022-02-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23221806, 25525159, 19085937)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291301 SCV002583757 pathogenic Trichothiodystrophy 1, photosensitive 2022-07-20 criteria provided, single submitter clinical testing PVS1, PM2, PS3
Labcorp Genetics (formerly Invitae), Labcorp RCV001837550 SCV003443398 pathogenic not provided 2024-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln662*) in the ERCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC2 are known to be pathogenic (PMID: 9238033, 11335038, 19085937, 19934020). This variant is present in population databases (rs778479250, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with trichothiodystrophy (PMID: 19085937). ClinVar contains an entry for this variant (Variation ID: 1319436). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470890 SCV004194651 pathogenic Cerebrooculofacioskeletal syndrome 2 2023-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001837550 SCV005092796 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing ERCC2: PVS1, PM2, PM3:Supporting

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