ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.85G>A (p.Glu29Lys)

dbSNP: rs1663696530
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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 RCV001218679 SCV001390573 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2019-06-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 29 of the TPM3 protein (p.Glu29Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 tolerated, 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 conditions. This variant is not present in population databases (ExAC no frequency).

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