ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)

dbSNP: rs764993824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001667855 SCV001890915 pathogenic Wolfram syndrome 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496000 SCV002795675 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094881 SCV005834936 pathogenic not provided 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp129*) in the WFS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WFS1 are known to be pathogenic (PMID: 12955714). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 15277431, 35018440). ClinVar contains an entry for this variant (Variation ID: 1264331). For these reasons, this variant has been classified as Pathogenic.

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