ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) (rs149059189)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000300881 SCV000237153 likely benign not specified 2017-12-08 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.
Invitae RCV001082051 SCV000286647 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000241687 SCV000319132 uncertain significance Cardiovascular phenotype 2013-09-25 criteria provided, single submitter clinical testing The p.V11262I variant (also known as c.33784G>A) is located in coding exon 174 of the TTN gene. This alteration results from a G to A substitution at nucleotide position 33784. The valine at codon 11262 is replaced by isoleucine, an amino acid with highly similar properties. ​ ​This variant was previously reported in the SNPDatabase as rs149059189. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.04% (5/12,442), having been observed in 0.12% (5/4078) of African American alleles, and not observed in 8364 European American alleles studied. Based on data from the 1000 Genomes Project, the A-allele has an overall frequency of approximately 0.05% (1/2184). The highest observed frequency was 0.52% (1/194) Luhya chromosomes studied. This amino acid position is poorly conserved in available vertebrate species. This variant is predicted to be benign by PolyPhen in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.V11262I remains unclear.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724877 SCV000332113 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724877 SCV001146399 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing

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