ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.25C>A (p.Gln9Lys) (rs730881149)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159394 SCV000209340 uncertain significance not provided 2014-05-13 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the TPM1 gene. The Q9K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Q9K variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q9K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Missense mutations in nearby residues (M8R, K15N) have been reported in association with dilated cardiomyopathy, supporting the functional importance of this region of the protein. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in HCM panel(s).
Ambry Genetics RCV000619514 SCV000740079 uncertain significance Cardiovascular phenotype 2016-11-29 criteria provided, single submitter clinical testing Insufficient evidence

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