ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.248C>T (p.Ala83Val)

gnomAD frequency: 0.00001  dbSNP: rs770922057
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002025428 SCV002273988 uncertain significance Arthrogryposis, distal, type 1A 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1483416). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TPM2-related conditions. This variant is present in population databases (rs770922057, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 83 of the TPM2 protein (p.Ala83Val).

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