ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)

gnomAD frequency: 0.00039  dbSNP: rs550975729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002057034 SCV000252506 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002057034 SCV002440072 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509048 SCV002769802 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 rs550975729 in Wolfram's syndrome yet.
Ambry Genetics RCV004020437 SCV004979925 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.92C>G (p.A31G) alteration is located in exon 2 (coding exon 1) of the WFS1 gene. This alteration results from a C to G substitution at nucleotide position 92, causing the alanine (A) at amino acid position 31 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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