ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5306T>C (p.Ile1769Thr)

dbSNP: rs886042493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364122 SCV000334487 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV001855108 SCV002281558 uncertain significance Qualitative or quantitative defects of dysferlin 2021-09-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1730 of the DYSF protein (p.Ile1730Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 282825). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYSF protein function. 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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