ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.835A>T (p.Asn279Tyr)

dbSNP: rs4523540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159345 SCV000209291 uncertain significance not provided 2011-09-21 criteria provided, single submitter clinical testing This variant is denoted Asn269Tyr (aka N269Y) at the protein level and c.805 A>T at the cDNA level. Asn269Tyr results in a conservative substitution of one neutral, polar amino acid for another at a residue that is conserved across mammal species, but the Asn269 residue is not conserved in lower species. However, mutations in nearby codons (Asn262Ser, Asp270Asn, Asn271Ile) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine whether the Asn269Tyr variant is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).

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