ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)

dbSNP: rs752461187
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761346 SCV000891332 likely pathogenic Wolfram syndrome 1 2018-04-09 criteria provided, single submitter clinical testing
GeneDx RCV001561058 SCV001783585 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 37277527, 25211237)
Labcorp Genetics (formerly Invitae), Labcorp RCV001561058 SCV002174355 uncertain significance not provided 2024-11-06 criteria provided, single submitter clinical testing This variant, c.577_579del, results in the deletion of 1 amino acid(s) of the WFS1 protein (p.Lys193del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752461187, gnomAD 0.02%). This variant has been observed in individual(s) with type 2 diabetes and/or Wolfram syndrome (PMID: 25211237, 37277527). ClinVar contains an entry for this variant (Variation ID: 623222). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252232 SCV002523916 likely pathogenic See cases 2020-12-20 criteria provided, single submitter clinical testing ACMG classification criteria: PS4, PM2, PM3, PP1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000761346 SCV002773846 likely pathogenic 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 rs752461187 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV005036090 SCV005664685 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-03-08 criteria provided, single submitter clinical testing

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