ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)

gnomAD frequency: 0.00001  dbSNP: rs574420969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866599 SCV001007719 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195473 SCV001365850 likely benign not specified 2020-04-20 criteria provided, single submitter clinical testing The p.Arg32141His variant in TTN is classified as likely benign because it has been identified in 0.09% (18/19532) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
Ambry Genetics RCV002399896 SCV002674254 uncertain significance Cardiovascular phenotype 2018-07-24 criteria provided, single submitter clinical testing The p.R25644H variant (also known as c.76931G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 76931. The arginine at codon 25644 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, histidine is the reference amino acid in other 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.

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