ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.979C>A (p.Leu327Ile)

dbSNP: rs71537678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664088 SCV000787540 uncertain significance Monogenic diabetes 2017-07-27 criteria provided, single submitter research ACMG Criteria:PP3 (9 predictors)
Labcorp Genetics (formerly Invitae), Labcorp RCV001855424 SCV002168273 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WFS1 protein function. ClinVar contains an entry for this variant (Variation ID: 549511). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs71537678, gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 327 of the WFS1 protein (p.Leu327Ile).
Fulgent Genetics, Fulgent Genetics RCV002485511 SCV002792542 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-20 criteria provided, single submitter clinical testing

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