ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.743A>T (p.Lys248Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141123 SCV003820920 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing
Invitae RCV003514608 SCV004311678 uncertain significance Arthrogryposis, distal, type 1A 2023-07-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 248 of the TPM2 protein (p.Lys248Met). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TPM2 protein function. ClinVar contains an entry for this variant (Variation ID: 2437203). This variant has not been reported in the literature in individuals affected with TPM2-related conditions.

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