ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.202C>T (p.Pro68Ser)

gnomAD frequency: 0.00001  dbSNP: rs876658046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218944 SCV000272601 uncertain significance not specified 2015-03-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro68Ser vari ant in TTN has not been previously reported in individuals with cardiomyopathy a nd was absent from large population studies. Proline (Pro) is not conserved in m ammals or evolutionarily distant species and the change to serine (Ser) is prese nt in several species (lizard, coelacanth, southern platyfish, and lamprey), rai sing the possibility that this change may be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Pro68Ser variant i s uncertain, the presence of the variant amino acid in multiple other species su ggests that it is more likely to be benign.
Ambry Genetics RCV002415904 SCV002719619 uncertain significance Cardiovascular phenotype 2019-01-17 criteria provided, single submitter clinical testing The p.P68S variant (also known as c.202C>T), located in coding exon 2 of the TTN gene, results from a C to T substitution at nucleotide position 202. The proline at codon 68 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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 RCV002503863 SCV002817058 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 2021-10-18 criteria provided, single submitter clinical testing

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