ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) (rs369107336)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218719 SCV000272916 uncertain significance not specified 2015-07-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser790Leu var iant in WFS1 has been previously reported as a polymorphism in a study of Japane se individuals with Wolfram syndrome (Matsunaga 2014). This variant has also bee n identified in 9/8474 East Asian chromosomes by the Exome Aggregation Consortiu m (ExAC,; dbSNP rs369107336). Although this varia nt has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation anal yses suggest that the Ser790Leu variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, whi le the clinical significance of the p.Ser790Leu variant is uncertain, these data suggest that it is more likely to be benign.
Invitae RCV001393083 SCV001594736 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing

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