ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) (rs571946670)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512770 SCV000609136 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825267 SCV000966559 likely benign not specified 2019-02-28 criteria provided, single submitter clinical testing The p.Ala787Thr variant in WFS1 is classified as likely benign due to a lack of conservation across species. Four mammals (marmoset, ferret, panda, aardvark) carry a Threonine (Thr) at this position despite high nearby amino acid conservation. In addition, computational prediction tools predict that this variant does not impact the protein. It has been identified in 8/19714 East Asian chromosomes by gnomAD ( ACMG/AMP Criteria applied: BP4_Strong.

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