ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96970G>A (p.Val32324Ile)

dbSNP: rs1454125243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622003 SCV000737174 uncertain significance Cardiovascular phenotype 2016-10-05 criteria provided, single submitter clinical testing The p.V23259I variant (also known as c.69775G>A), located in coding exon 175 of the TTN gene, results from a G to A substitution at nucleotide position 69775. The valine at codon 23259 is replaced by isoleucine, an amino acid with highly similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6138 samples (12276 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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