ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg)

gnomAD frequency: 0.00013  dbSNP: rs370928582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593015 SCV000708325 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358664 SCV002656096 uncertain significance Cardiovascular phenotype 2020-03-03 criteria provided, single submitter clinical testing The p.G21659R variant (also known as c.64975G>C), located in coding exon 166 of the TTN gene, results from a G to C substitution at nucleotide position 64975. The glycine at codon 21659 is replaced by arginine, an amino acid with dissimilar 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 RCV002491220 SCV002797035 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 2021-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000593015 SCV003824247 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing

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