ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102094_102096dup (p.Tyr34032dup)

gnomAD frequency: 0.00003  dbSNP: rs763311506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769854 SCV000901280 uncertain significance Cardiomyopathy 2016-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388388 SCV002668606 uncertain significance Cardiovascular phenotype 2022-07-05 criteria provided, single submitter clinical testing The c.74899_74901dupTAT variant (also known as p.Y24967dup), located in coding exon 185 of the TTN gene, results from an in-frame duplication of TAT at nucleotide positions 74899 to 74901. This results in the duplication of an extra residue between codons 24967 and 24968. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141752 SCV003825526 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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