ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del)

gnomAD frequency: 0.00001  dbSNP: rs758914867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831099 SCV000972840 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Predicted to result in the in-frame deletion of one amino acid, in a gene in which most reported pathogenic variants are truncating/loss-of-function
Ambry Genetics RCV002363186 SCV002656657 uncertain significance Cardiovascular phenotype 2023-03-22 criteria provided, single submitter clinical testing The c.62991_62993delCAC variant (also known as p.T20998del) is located in coding exon 162 of the TTN gene. This variant results from an in-frame CAC deletion at nucleotide positions 62991 to 62993. This results in the in-frame deletion of a threonine at codon 20998. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002495200 SCV002781197 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 2021-07-16 criteria provided, single submitter clinical testing

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