Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191077 | SCV000245470 | pathogenic | Woodhouse-Sakati syndrome | 2014-10-24 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 23-year-old male with diabetes, dystonia, coordination difficulties, thumb stiffening, ulnar deviation of the hand, hypernasal voice, hypothyroidism, hypogonadism, chronic facial and extremity edema and erythema, similarly affected sib (not tested). Variant pathogenic in recessive state; heterozygotes are carriers. |
Genetic Services Laboratory, |
RCV000191077 | SCV000247163 | pathogenic | Woodhouse-Sakati syndrome | 2015-05-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000278884 | SCV000330033 | pathogenic | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | Frameshift 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26633545, 6876115, 26664771, 24015686, 29574468, 32033986, 32552793, 33543475, 31589614, 33144682, 33098801, 19026396) |
Eurofins Ntd Llc |
RCV000278884 | SCV000340343 | pathogenic | not provided | 2016-03-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000191077 | SCV001416367 | pathogenic | Woodhouse-Sakati syndrome | 2021-08-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala147Hisfs*9) in the DCAF17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DCAF17 are known to be pathogenic (PMID: 19026396, 20507343). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individuals with Woodhouse-Sakati syndrome (PMID: 19026396, 24015686, 26664771). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 209146). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV000278884 | SCV001905513 | pathogenic | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000191077 | SCV002018146 | pathogenic | Woodhouse-Sakati syndrome | 2021-12-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000278884 | SCV002544118 | pathogenic | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | DCAF17: PVS1, PM2, PM3:Supporting |
Laboratoire de Génétique Moléculaire, |
RCV000278884 | SCV002568844 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Center for Genomic Medicine, |
RCV000191077 | SCV003924291 | pathogenic | Woodhouse-Sakati syndrome | 2023-05-08 | criteria provided, single submitter | research | |
OMIM | RCV000191077 | SCV000020709 | pathogenic | Woodhouse-Sakati syndrome | 2008-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000191077 | SCV000297808 | not provided | Woodhouse-Sakati syndrome | no assertion provided | literature only | ||
Biochemical Molecular Genetic Laboratory, |
RCV000191077 | SCV001132988 | pathogenic | Woodhouse-Sakati syndrome | 2019-08-25 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004757156 | SCV005347691 | pathogenic | DCAF17-related disorder | 2024-07-09 | no assertion criteria provided | clinical testing | The DCAF17 c.436delC variant is predicted to result in a frameshift and premature protein termination (p.Ala147Hisfs*9). This variant has been reported in multiple families with autosomal recessive Woodhouse-Sakati syndrome (see for examples Alazami et al. 2008. PubMed ID: 19026396, Maddirevula et al. 2020. PubMed ID: 32552793, Nanda et al. 2014. PubMed ID: 24015686). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in DCAF17 are expected to be pathogenic. This variant is interpreted as pathogenic. |