ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)

dbSNP: rs104894128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513007 SCV003440789 uncertain significance Arthrogryposis, distal, type 1A 2023-06-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies have shown that this missense change affects TPM2 function (PMID: 22084935, 26708479, 30545627). 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) performed at Invitae indicates that this missense variant is expected to disrupt TPM2 protein function. ClinVar contains an entry for this variant (Variation ID: 12461). This missense change has been observed in individual(s) with nemaline myopathy (PMID: 11738357). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 147 of the TPM2 protein (p.Gln147Pro).
OMIM RCV000013277 SCV000033524 pathogenic Congenital myopathy 23 2002-02-01 no assertion criteria provided literature only
TPM2 homepage - Leiden Muscular Dystrophy pages RCV000128685 SCV000172325 not provided not provided no assertion provided not provided

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