ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.224C>T (p.Thr75Met)

dbSNP: rs767340310
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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) RCV000271058 SCV000342792 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001855211 SCV002139636 uncertain significance Qualitative or quantitative defects of dysferlin 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 74 of the DYSF protein (p.Thr74Met). This variant is present in population databases (rs767340310, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 288625). 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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