ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro)

gnomAD frequency: 0.00006  dbSNP: rs911182620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592160 SCV001822442 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002368620 SCV002664176 uncertain significance Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing The p.T411P variant (also known as c.1231A>C), located in coding exon 6 of the TTN gene, results from an A to C substitution at nucleotide position 1231. The threonine at codon 411 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506695 SCV002815037 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 2021-07-29 criteria provided, single submitter clinical testing

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