ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del)

dbSNP: rs1560418164
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681944 SCV001794588 likely pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11317350, 29277467, 15151504, 12955714, 11161832)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509508 SCV002817338 likely risk allele Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs1560418164 in Wolfram's syndrome yet.
Invitae RCV000681944 SCV004293158 uncertain significance not provided 2023-12-31 criteria provided, single submitter clinical testing This variant, c.1049_1051del, results in the deletion of 1 amino acid(s) of the WFS1 protein (p.Phe350del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individual(s) with Wolfram syndrome (PMID: 11161832, 28432734). This variant is also known as c.1046delTCT (350delF). ClinVar contains an entry for this variant (Variation ID: 562461). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Gharavi Laboratory, Columbia University RCV000681944 SCV000809431 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.