ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) (rs200648462)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040831 SCV000064522 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Arg29465His in Exon 295 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (14/3210) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //;). Arg29465His in Exon 295 of TTN (allele frequency = 0.4%, 14/3210) **
GeneDx RCV000040831 SCV000237817 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000252794 SCV000319160 uncertain significance Cardiovascular phenotype 2013-11-21 criteria provided, single submitter clinical testing The p.R29465H variant (also known as c.88394G>A) is located in coding exon 294 of the TTN gene. This alteration results from a G to A substitution at nucleotide position 88394. The arginine at codon 29465 is replaced by histidine, an amino acid with some highly similar properties. ​This variant was previously reported in the SNPDatabase as rs200648462. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.14% (17/12,192), having been observed in 0.39% (15/3896) of African American alleles, and in 0.02% (2/8296) of European American alleles studied.This amino acid position is highly conserved on sequence alignment.This variant is predicted to be probably damaging by PolyPhen in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.R29465H remains unclear.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040831 SCV000332160 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV000463548 SCV000555332 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-28 criteria provided, single submitter clinical testing

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