ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del)

dbSNP: rs797046112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193337 SCV000249460 likely pathogenic Wolfram syndrome 2015-06-24 criteria provided, single submitter clinical testing
Invitae RCV001853123 SCV002231617 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This variant, c.1240_1242del, results in the deletion of 1 amino acid(s) of the WFS1 protein (p.Phe414del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs797046112, gnomAD 0.003%). This variant has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 12955714, 15605410, 23981289, 30232070). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 212611). For these reasons, this variant has been classified as Pathogenic.

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