ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1392C>T (p.Thr464=) (rs565697340)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152675 SCV000202039 likely benign not specified 2013-11-26 criteria provided, single submitter clinical testing Thr464Thr in exon 8 of WFS1: This variant has not been previously reported in in dividuals with hearing loss or in large population studies. It is not expected t o have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
GeneDx RCV000152675 SCV000522297 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV001153152 SCV001314414 uncertain significance WFS1-Related Spectrum Disorders 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001153153 SCV001314415 likely benign Autosomal dominant nonsyndromic deafness 6 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001505804 SCV001710715 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing

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