ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52028A>T (p.Asp17343Val)

gnomAD frequency: 0.00001  dbSNP: rs201796622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172317 SCV000054989 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172317 SCV000701233 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426822 SCV002740424 uncertain significance Cardiovascular phenotype 2020-02-28 criteria provided, single submitter clinical testing The p.D8278V variant (also known as c.24833A>T), located in coding exon 100 of the TTN gene, results from an A to T substitution at nucleotide position 24833. The aspartic acid at codon 8278 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available 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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