ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) (rs370629962)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172305 SCV000054981 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000595518 SCV000237327 likely benign not specified 2017-06-05 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 RCV001087751 SCV000286730 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242147 SCV000319985 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.V9831M variant (also known as c.29491G>A), located in coding exon 118 of the TTN gene, results from a G to A substitution at nucleotide position 29491. The valine at codon 9831 is replaced by methionine, an amino acid with highly similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet. 2013;6(4):337-46). This amino acid position is 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172305 SCV000701090 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768983 SCV000900356 uncertain significance Cardiomyopathy 2016-07-11 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293199 SCV001434197 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research

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