ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5993G>T (p.Arg1998Leu)

dbSNP: rs144135510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509197 SCV001715780 uncertain significance not provided 2020-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359140 SCV002650886 uncertain significance Cardiovascular phenotype 2019-11-19 criteria provided, single submitter clinical testing The p.R1952L variant (also known as c.5855G>T), located in coding exon 26 of the TTN gene, results from a G to T substitution at nucleotide position 5855. The arginine at codon 1952 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001509197 SCV003822145 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528503 SCV004109476 uncertain significance TTN-related disorder 2023-03-15 criteria provided, single submitter clinical testing The TTN c.5993G>T variant is predicted to result in the amino acid substitution p.Arg1998Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179640598-C-A). 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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