ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.128C>T (p.Ala43Val)

dbSNP: rs727503746
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Total submissions: 2
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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 RCV000152662 SCV000202018 likely benign not specified 2013-11-06 criteria provided, single submitter clinical testing Ala43Val in Exon 02 of WFS1: This variant is not expected to have clinical signi ficance because the alanine (Ala) residue at position 43 is poorly conserved ac ross several species, with horse and chicken having a valine (Val) at that posit ion. In addition, computational analyses (biochemical amino acid properties, SIF T, PolyPhen2, and AlignGVGD) do not predict an impact to the protein.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509039 SCV002769810 uncertain significance 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 rs727503746 in Wolfram's syndrome yet.

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