ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.862-3C>G

gnomAD frequency: 0.00006  dbSNP: rs201889635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546108 SCV001765564 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001546108 SCV002061698 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing PP3, PM2
Invitae RCV001546108 SCV002202547 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the WFS1 gene. It does not directly change the encoded amino acid sequence of the WFS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201889635, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1186868). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002488365 SCV002792228 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-06 criteria provided, single submitter clinical testing

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