ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99016G>C (p.Glu33006Gln)

dbSNP: rs201931674
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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 RCV000619522 SCV000736686 uncertain significance Cardiovascular phenotype 2016-09-23 criteria provided, single submitter clinical testing The p.E23941Q variant (also known as c.71821G>C), located in coding exon 181 of the TTN gene, results from a G to C substitution at nucleotide position 71821, and is located in the A-band region of the N2-B isoform of the titin protein. The glutamic acid at codon 23941 is replaced by glutamine, an amino acid with highly similar properties. 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 5988 samples (11976 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other 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 variant remains unclear.

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