ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr)

gnomAD frequency: 0.00001  dbSNP: rs1553686153
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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 RCV000643333 SCV000765020 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424460 SCV002740692 uncertain significance Cardiovascular phenotype 2020-09-18 criteria provided, single submitter clinical testing The p.S8684T variant (also known as c.26051G>C), located in coding exon 104 of the TTN gene, results from a G to C substitution at nucleotide position 26051. The serine at codon 8684 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available 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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