ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41423G>A (p.Arg13808His)

gnomAD frequency: 0.00001  dbSNP: rs764850788
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172341 SCV000055004 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172341 SCV000334410 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617390 SCV000737097 uncertain significance Cardiovascular phenotype 2016-06-16 criteria provided, single submitter clinical testing The p.R4743H variant (also known as c.14228G>A), located in coding exon 53 of the TTN gene, results from a G to A substitution at nucleotide position 14228. This alteration is located in the I-band region of the N2-B isoform of the titin protein. The arginine at codon 4743 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet. 2013;6(4):337-46 (reported as p.R11240H, c.33719G>A)). This variant was previously reported in the SNPDatabase as rs764850788. Based on data from ExAC, the A allele has an overall frequency of less than 0.01% (3/103331). In the ESP, this variant was not observed in 6217 samples (12434 alleles) with coverage at this position. 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 variant remains unclear.
Revvity Omics, Revvity RCV000172341 SCV003824921 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing
New York Genome Center RCV003227691 SCV003925231 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-07-06 criteria provided, single submitter clinical testing

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