ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)

gnomAD frequency: 0.00001  dbSNP: rs374085402
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229639 SCV000286662 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253847 SCV000319982 uncertain significance Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing The p.H5457R variant (also known as c.16370A>G), located in coding exon 63 of the TTN gene, results from an A to G substitution at nucleotide position 16370. The histidine at codon 5457 is replaced by arginine, 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 probably damaging and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Eurofins Ntd Llc (ga) RCV000725708 SCV000701091 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000725708 SCV000714716 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769020 SCV000900393 uncertain significance Cardiomyopathy 2016-06-16 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293151 SCV001434141 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Revvity Omics, Revvity RCV000725708 SCV003826575 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing

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