ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.708C>T (p.Ser236=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003729828 SCV004537426 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change affects codon 236 of the WFS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WFS1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with WFS1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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 RCV005037014 SCV005664696 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-04-10 criteria provided, single submitter clinical testing

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