ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)

gnomAD frequency: 0.00002  dbSNP: rs777035261
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643240 SCV000764927 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764300 SCV000895319 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000836270 SCV000978112 likely benign not provided 2018-03-15 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 RCV002369697 SCV002673429 uncertain significance Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing The p.R24020H variant (also known as c.72059G>A), located in coding exon 181 of the TTN gene, results from a G to A substitution at nucleotide position 72059. The arginine at codon 24020 is replaced by histidine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000836270 SCV003822853 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533356 SCV004120599 uncertain significance TTN-related disorder 2022-12-29 criteria provided, single submitter clinical testing The TTN c.99254G>A variant is predicted to result in the amino acid substitution p.Arg33085His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179403302-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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