ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63187+5G>T

gnomAD frequency: 0.00001  dbSNP: rs1292388582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767635 SCV001998536 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV002488570 SCV002791171 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681243 SCV005180100 uncertain significance Cardiovascular phenotype 2024-06-12 criteria provided, single submitter clinical testing The c.35992+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 131 in the TTN gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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