ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)

gnomAD frequency: 0.00008  dbSNP: rs373129706
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467683 SCV000542644 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000600782 SCV000722443 likely benign not specified 2017-08-25 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 RCV002356642 SCV002650795 uncertain significance Cardiovascular phenotype 2019-05-15 criteria provided, single submitter clinical testing The p.R19426H variant (also known as c.58277G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58277. The arginine at codon 19426 is replaced by histidine, an amino acid with highly similar properties. 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 alteration remains unclear.
Revvity Omics, Revvity Omics RCV003139617 SCV003826694 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150214 SCV003838528 likely benign Cardiomyopathy 2021-11-15 criteria provided, single submitter clinical testing

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