ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.172G>C (p.Asp58His) (rs199476304)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456653 SCV000547692 uncertain significance Hypertrophic cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 58 of the TPM1 protein (p.Asp58His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (rs199476304, ExAC no frequency). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 19659763). ClinVar contains an entry for this variant (Variation ID: 31875). Experimental studies have shown that this missense change decreases the binding affinity of TPM1 to actin (PMID: 25241052). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Muscular Dystrophy (TPM1) RCV000024571 SCV000045877 not provided not provided 2012-04-15 no assertion provided curation

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