ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)

gnomAD frequency: 0.00005  dbSNP: rs759466443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001151791 SCV001312961 uncertain significance Autosomal dominant nonsyndromic hearing loss 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001151792 SCV001312962 uncertain significance WFS1-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001759907 SCV002007325 uncertain significance not provided 2020-11-10 criteria provided, single submitter clinical testing Identified in a patient with hearing loss in published literature, however, the patient also harbored a variant in a different gene associated with hearing loss (Iwasa et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27911912, 15234338)
Invitae RCV001759907 SCV002121357 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs759466443, gnomAD 0.03%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WFS1 protein function. ClinVar contains an entry for this variant (Variation ID: 904089). This missense change has been observed in individual(s) with clinical features of WFS1-related conditions (PMID: 15234338, 27911912). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 383 of the WFS1 protein (p.Arg383Cys).
Fulgent Genetics, Fulgent Genetics RCV002483888 SCV002776706 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-21 criteria provided, single submitter clinical testing

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