ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr)

dbSNP: rs2092336619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323513 SCV001514432 uncertain significance Nemaline myopathy 10 2020-04-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LMOD3-related conditions. This sequence change replaces lysine with threonine at codon 557 of the LMOD3 protein (p.Lys557Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly 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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