ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)

gnomAD frequency: 0.00004  dbSNP: rs777095470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643318 SCV000765005 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334125 SCV002618841 uncertain significance Cardiovascular phenotype 2019-09-24 criteria provided, single submitter clinical testing The p.R11874H variant (also known as c.35621G>A), located in coding exon 131 of the TTN gene, results from a G to A substitution at nucleotide position 35621. The arginine at codon 11874 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.
Fulgent Genetics, Fulgent Genetics RCV002483844 SCV002787121 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-11 criteria provided, single submitter clinical testing

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