ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43747+5G>C

dbSNP: rs878854308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226057 SCV000286664 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-03-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508113 SCV001714048 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165614 SCV003856896 uncertain significance Cardiovascular phenotype 2023-01-23 criteria provided, single submitter clinical testing The c.16552+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 63 in the TTN gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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