ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11614G>A (p.Gly3872Ser) (rs754936734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614748 SCV000718970 likely benign not specified 2017-04-27 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.
Ambry Genetics RCV000621266 SCV000736624 uncertain significance Cardiovascular phenotype 2016-06-10 criteria provided, single submitter clinical testing The p.G3509S variant (also known as c.10525G>A), located in coding exon 44 of the TTN gene, results from a G to A substitution at nucleotide position 10525. The glycine at codon 3509 is replaced by serine, an amino acid with similar properties, and is located in the I-band region of the N2-Bisoformof thetitinprotein. Based on data fromExAC, the A allele has an overall frequency less than0.01% (1/105457).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 6021 samples (12042 alleles) with coverage at this position. This amino acid position is not well 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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