ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63558G>A (p.Val21186=)

gnomAD frequency: 0.00002  dbSNP: rs200261892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040466 SCV000064157 likely benign not specified 2012-05-01 criteria provided, single submitter clinical testing Val18618Val in exon 255 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Val18618Val in exon 255 of TTN (allele freq uency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054796 SCV002481652 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453329 SCV002615982 uncertain significance Cardiovascular phenotype 2021-02-25 criteria provided, single submitter clinical testing The c.36363G>A variant (also known as p.V12121V), located in coding exon 133 of the TTN gene, results from a G to A substitution at nucleotide position 36363. This nucleotide substitution does not change the valine at codon 12121. This nucleotide position is not 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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