ClinVar Miner

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

dbSNP: rs1060501866
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Total submissions: 3
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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
Ambry Genetics RCV004022678 SCV005036948 uncertain significance Cardiovascular phenotype 2023-12-25 criteria provided, single submitter clinical testing The p.L50I variant (also known as c.148C>A), located in coding exon 2 of the TPM1 gene, results from a C to A substitution at nucleotide position 148. The leucine at codon 50 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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