ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) (rs587780983)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125950 SCV000169430 benign not specified 2014-03-05 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.
Blueprint Genetics RCV000208035 SCV000264286 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619452 SCV000735687 uncertain significance Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing The p.F22740L variant (also known as c.68220C>A), located in coding exon 170 of the TTN gene, results from a C to A substitution at nucleotide position 68220. The phenylalanine at codon 22740 is replaced by leucine, an amino acid with highly similar properties. This variant was detected in an individual with arrhythmogenic right ventricular cardiomyopathy who also had variants in the OBSCN gene (Forleo C et al. PLoS ONE, 2017 Jul;12:e0181842). 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.
Invitae RCV000643873 SCV000765560 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170758 SCV001333364 uncertain significance Cardiomyopathy 2019-03-14 criteria provided, single submitter clinical testing

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