ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)

gnomAD frequency: 0.00003  dbSNP: rs376526037
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494216 SCV000583072 likely pathogenic not provided 2022-03-21 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; This variant is associated with the following publications: (PMID: 27004399, 29572252, 28440418, 32959227, 34006472, 32005694)
Ambry Genetics RCV000622933 SCV000742728 pathogenic Inborn genetic diseases 2017-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002475978 SCV000893162 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2024-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000494216 SCV001211290 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg612*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (rs376526037, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Cockayne disease (PMID: 28440418). ClinVar contains an entry for this variant (Variation ID: 430298). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
3billion RCV001775125 SCV002012043 pathogenic Cerebrooculofacioskeletal syndrome 1 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000021, PM2). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000430298.6). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Counsyl RCV000664544 SCV000788526 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME 2017-11-13 no assertion criteria provided clinical testing

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