ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)

gnomAD frequency: 0.00001  dbSNP: rs761036509
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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 RCV000801663 SCV000941451 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2018-11-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TPM3-related disease. This variant is present in population databases (rs761036509, ExAC 0.01%). This sequence change replaces isoleucine with threonine at codon 254 of the TPM3 protein (p.Ile254Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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