ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr) (rs752318420)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618337 SCV000737146 uncertain significance Cardiovascular phenotype 2016-08-18 criteria provided, single submitter clinical testing The p.A6135T variant (also known as c.18403G>A), located in coding exon 73 of the TTN gene, results from a G to A substitution at nucleotide position 18403. The alanine at codon 6135 is replaced by threonine, 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 6062 samples (12124 alleles) with coverage at this position. Based on data from ExAC, the A allele has an overall frequency of <0.01% (6/104694). This amino acid position is highly 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 variant remains unclear.
GeneDx RCV000840349 SCV000982274 likely benign not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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