ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.853A>G (p.Ile285Val)

gnomAD frequency: 0.00001  dbSNP: rs758557977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349509 SCV001543860 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-11-15 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1045149). This missense change has been observed in individual(s) with clinical features of autosomal dominant congenital myopathy (Invitae). This variant is present in population databases (rs758557977, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 285 of the TPM3 protein (p.Ile285Val).
Revvity Omics, Revvity RCV003136016 SCV003820936 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing

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