ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26872T>C (p.Ser8958Pro)

gnomAD frequency: 0.00001  dbSNP: rs886038913
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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 RCV000248857 SCV000319059 uncertain significance Cardiovascular phenotype 2013-10-18 criteria provided, single submitter clinical testing The p.S7714P variant (also known as c.23140T>C) is located in coding exon 89 of the TTNgene. This alteration results from a T to C substitution at nucleotide position 23140. The serine at codon 7714 is replaced by proline, an amino acid with some dissimilar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6033 samples (12066 alleles) with coverage at this position.Based on protein sequence alignment, this amino acid position is not well/not conserved in available vertebrate species. In addition, this alteration is predicted to be benignby PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.​

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