ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.852A>T (p.Ile284=)

dbSNP: rs759481997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187110 SCV001353777 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447015 SCV002676746 uncertain significance Cardiovascular phenotype 2021-01-11 criteria provided, single submitter clinical testing The c.852A>T variant (also known as p.I284I), located in coding exon 10 of the TPM1 gene, results from an A to T substitution at nucleotide position 852. This nucleotide substitution does not change the isoleucine at codon 284. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003748329 SCV004525184 uncertain significance Hypertrophic cardiomyopathy 2022-11-04 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 925275). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 284 of the TPM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TPM1 protein. It affects a nucleotide within the consensus splice site.
All of Us Research Program, National Institutes of Health RCV003748329 SCV004815473 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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