ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.508G>A (p.Val170Ile)

dbSNP: rs1555409095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505992 SCV000605427 uncertain significance not specified 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV001857280 SCV002222322 uncertain significance Hypertrophic cardiomyopathy 2023-12-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 170 of the TPM1 protein (p.Val170Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 440350). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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