ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr) (rs199476307)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813393 SCV000953752 uncertain significance Hypertrophic cardiomyopathy 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 70 of the TPM1 protein (p.Lys70Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family with mild hypertrophic cardiomyopathy (PMID: 8774330). ClinVar contains an entry for this variant (Variation ID: 31878). Experimental studies have shown that this missense change decreases TMP1 stability (PMID: 25241052, 12900417, 15479242). 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.
Leiden Muscular Dystrophy (TPM1) RCV000024574 SCV000045880 not provided not provided 2012-04-15 no assertion provided curation

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