ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.272G>A (p.Arg91His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002741325 SCV003014530 uncertain significance Arthrogryposis, distal, type 1A 2022-08-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 91 of the TPM2 protein (p.Arg91His). This missense change has been observed in individual(s) with clinical features of TPM2-related conditions (PMID: 22980765). 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.

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