ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys)

dbSNP: rs1566937844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769479 SCV000900874 uncertain significance Cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV001855983 SCV002146768 uncertain significance Hypertrophic cardiomyopathy 2022-09-26 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: 626550). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 72 of the TPM1 protein (p.Glu72Lys).

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