ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs)

dbSNP: rs2154260181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224426 SCV002503096 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing
GeneDx RCV002224426 SCV002757510 likely pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017)
Fulgent Genetics, Fulgent Genetics RCV002496157 SCV002780065 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 2021-10-05 criteria provided, single submitter clinical testing

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