ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.784G>A (p.Ala262Thr)

gnomAD frequency: 0.00001  dbSNP: rs758506771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532880 SCV000623813 uncertain significance Hypertrophic cardiomyopathy 2023-01-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 454421). 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. This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is present in population databases (rs758506771, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 262 of the TPM1 protein (p.Ala262Thr).
GeneDx RCV001755780 SCV001987585 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#454421; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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