ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.680A>G (p.Lys227Arg)

gnomAD frequency: 0.00001  dbSNP: rs201202440
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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 RCV001949895 SCV002202285 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-07-06 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. ClinVar contains an entry for this variant (Variation ID: 1427119). This variant has not been reported in the literature in individuals affected with TPM3-related conditions. This variant is present in population databases (rs201202440, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 227 of the TPM3 protein (p.Lys227Arg).

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