ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys) (rs483352833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159302 SCV000209248 uncertain significance not provided 2013-11-07 criteria provided, single submitter clinical testing The Asn164Lys variant in the TNNT2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asn164Lys results in a non-conservative amino acid substitution of a neutral, polar Asparagine residue with a positively charged Lysine residue at a position that is not well conserved across species. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. However, mutations in nearby residues (Glu163Lys, Ala172Ser) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. The Asn164Lys 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. With the clinical and molecular information available at this time, we cannot definitively determine if Asn164Lys is a disease-causing mutation or a rare benign variant. The variant is found in HCM panel(s).
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV001089605 SCV001245079 uncertain significance Hypertrophic cardiomyopathy 2018-10-16 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.

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