ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)

gnomAD frequency: 0.00002  dbSNP: rs767805308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801289 SCV000941060 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 602 of the DYSF protein (p.Thr602Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs767805308, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Natera, Inc. RCV001825582 SCV002079831 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-22 no assertion criteria provided clinical testing

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