ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45890T>C (p.Val15297Ala)

gnomAD frequency: 0.00001  dbSNP: rs775158152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170843 SCV001333463 uncertain significance Cardiomyopathy 2019-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411662 SCV002724153 uncertain significance Cardiovascular phenotype 2020-01-06 criteria provided, single submitter clinical testing The p.V6232A variant (also known as c.18695T>C), located in coding exon 74 of the TTN gene, results from a T to C substitution at nucleotide position 18695. The valine at codon 6232 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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