ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52629A>G (p.Arg17543=)

dbSNP: rs748001472
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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 RCV000525269 SCV000643325 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456145 SCV002739361 uncertain significance Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing The c.25434A>G variant (also known as p.R8478R), located in coding exon 102 of the TTN gene, results from an A to G substitution at nucleotide position 25434. This nucleotide substitution does not change the arginine at codon 8478. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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