ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe)

gnomAD frequency: 0.00003  dbSNP: rs771391168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222582 SCV000272920 uncertain significance not specified 2016-12-22 criteria provided, single submitter clinical testing The p.Leu854Phe variant in WFS1 has been previously identified by our laboratory in one individual with hearing loss. This variant has also been identified in 2 /6596 Finnish chromosomes and 2/65330 European chromosomes by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs771391168). Althou gh this variant has been seen in the general population, its frequency is not hi gh enough to rule out a pathogenic role. Computational prediction tools and cons ervation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Leu854Phe variant is unc ertain.
Fulgent Genetics, Fulgent Genetics RCV002478782 SCV002781251 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-28 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148683 SCV003804408 uncertain risk allele 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 rs771391168 in Wolfram's syndrome yet.

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