ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile)

dbSNP: rs1060501866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464388 SCV000547696 uncertain significance Hypertrophic cardiomyopathy 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TPM1-related conditions. 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: 408135). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 50 of the TPM1 protein (p.Leu50Ile).
GeneDx RCV001712417 SCV001940225 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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