ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.436del (p.Ala147fs)

dbSNP: rs797045038
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Total submissions: 14
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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, University of Chicago RCV000191077 SCV000247163 pathogenic Woodhouse-Sakati syndrome 2015-05-05 criteria provided, single submitter clinical testing
GeneDx 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 (ga) RCV000278884 SCV000340343 pathogenic not provided 2016-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, University Hospital Tübingen RCV000278884 SCV001905513 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000191077 SCV002018146 pathogenic Woodhouse-Sakati syndrome 2021-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000278884 SCV002544118 pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing DCAF17: PVS1, PM2, PM3:Supporting
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV000278884 SCV002568844 pathogenic not provided criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
GeneReviews RCV000191077 SCV000297808 not provided Woodhouse-Sakati syndrome no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000191077 SCV001132988 pathogenic Woodhouse-Sakati syndrome 2019-08-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences 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.

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