ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1696G>A (p.Ala566Thr)

gnomAD frequency: 0.00001  dbSNP: rs727504695
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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, Mass General Brigham Personalized Medicine RCV000155972 SCV000205684 uncertain significance not specified 2013-08-16 criteria provided, single submitter clinical testing The Ala566Thr variant in JUP has not been reported in individuals with cardiomyo pathy or in large population studies. The affected amino acid is conserved in ev olution, suggesting that a change would not be tolerated. Other computational an alyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. Additional inf ormation is needed to fully assess the clinical significance of the Ala566Thr va riant.
GeneDx RCV000767104 SCV000535214 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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