ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu) (rs730881147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159386 SCV000209332 uncertain significance not provided 2014-06-16 criteria provided, single submitter clinical testing The Q263E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Q263E variant was not observed in approximately 6,500 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 Q263E 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. Nevertheless, in silico analysis predicts this variant likely does not alter the protein structure/function. Missense mutations in nearby residues have not been reported in association with disease, suggesting this region of the protein may be tolerant of change. 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).
Center for Human Genetics,University of Leuven RCV000768534 SCV000886853 uncertain significance Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing

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