ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52332T>G (p.Arg17444=)

gnomAD frequency: 0.00001  dbSNP: rs373423993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003788763 SCV004571287 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992822 SCV005528134 uncertain significance Cardiovascular phenotype 2024-11-19 criteria provided, single submitter clinical testing The c.25137T>G variant (also known as p.R8379R), located in coding exon 101 of the TTN gene, results from a T to G substitution at nucleotide position 25137. This nucleotide substitution does not change the arginine at codon 8379. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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