ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) (rs149865710)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001155662 SCV001317110 likely benign Autosomal dominant nonsyndromic deafness 6 2017-06-20 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001155663 SCV001317111 uncertain significance WFS1-Related Spectrum Disorders 2017-06-20 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV001195409 SCV001365759 uncertain significance not specified 2019-08-12 criteria provided, single submitter clinical testing The p.Val412Leu variant in WFS1 has not been previously reported in individuals with hearing loss, Wolfram syndrome, or Wolfram-like syndrome. It has been identified in 0.097% (18/18392) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 143131). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BS1_Supporting.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132655 SCV000172606 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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