ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)

gnomAD frequency: 0.00005  dbSNP: rs191522469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461538 SCV000542881 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170515 SCV001333098 uncertain significance Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393084 SCV002671949 uncertain significance Cardiovascular phenotype 2019-09-13 criteria provided, single submitter clinical testing The p.G25086R variant (also known as c.75256G>C), located in coding exon 185 of the TTN gene, results from a G to C substitution at nucleotide position 75256. The glycine at codon 25086 is replaced by arginine, an amino acid with dissimilar properties. 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.
Revvity Omics, Revvity RCV003139634 SCV003826750 uncertain significance not provided 2019-01-23 criteria provided, single submitter clinical testing
GeneDx RCV003139634 SCV005685671 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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