ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr)

dbSNP: rs146819460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035392 SCV001198717 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 810 of the DYSF protein (p.Pro810Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs146819460, ExAC 0.004%). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV003145257 SCV003829577 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832372 SCV002079853 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-10-06 no assertion criteria provided clinical testing

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