ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)

gnomAD frequency: 0.00013  dbSNP: rs373753003
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704942 SCV000237962 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV000474201 SCV000542871 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001704942 SCV002541992 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453684 SCV002614605 uncertain significance Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing The p.P1161T variant (also known as c.3481C>A), located in coding exon 20 of the TTN gene, results from a C to A substitution at nucleotide position 3481. The proline at codon 1161 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV001704942 SCV003818406 uncertain significance not provided 2020-04-05 criteria provided, single submitter clinical testing

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