ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) (rs1294912316)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000616371 SCV000731354 uncertain significance not specified 2016-12-14 criteria provided, single submitter clinical testing The p.Thr1220Met variant in DYSF has not been previously reported in individuals with myopathy or in large population studies. Computational prediction tools a nd conservation analysis suggest that the p.Thr1220Met variant may impact the pr otein, though this information is not predictive enough to determine pathogenici ty. In summary, the clinical significance of the p.Thr1220Met variant is uncerta in.

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