ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) (rs201209494)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731372 SCV000859182 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393103 SCV000431773 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313252 SCV000431774 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000702161 SCV000831002 uncertain significance Dysferlinopathy 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 937 of the DYSF protein (p.Thr937Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs201209494, ExAC 0.01%). This variant has been reported as homozygous in an individual with Miyoshi myopathy in the Universal Mutation Database (PMID: 22213072). ClinVar contains an entry for this variant (Variation ID: 336962). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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