ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala)

gnomAD frequency: 0.00006  dbSNP: rs764500643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643108 SCV000764795 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397235 SCV002707584 uncertain significance Cardiovascular phenotype 2020-02-12 criteria provided, single submitter clinical testing The p.T5436A variant (also known as c.16306A>G), located in coding exon 63 of the TTN gene, results from an A to G substitution at nucleotide position 16306. The threonine at codon 5436 is replaced by alanine, an amino acid with 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.
Revvity Omics, Revvity RCV003139984 SCV003826054 uncertain significance not provided 2021-03-22 criteria provided, single submitter clinical testing

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