Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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 |
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 |