ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78944G>C (p.Gly26315Ala)

dbSNP: rs886039199
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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 RCV000245059 SCV000320607 uncertain significance Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing The p.G17250A variant (also known as c.51749G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 51749. The glycine at codon 17250 is replaced by alanine, an amino acid with 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 6012 samples (12024 alleles) with coverage at this position. 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 variant remains unclear.

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