ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) (rs775539496)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726444 SCV000344685 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000304844 SCV000719635 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000804560 SCV000944476 uncertain significance Dysferlinopathy 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 702 of the DYSF protein (p.Thr702Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs775539496, ExAC 0.02%). This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 290178). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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