ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)

gnomAD frequency: 0.00001  dbSNP: rs876658090
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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 RCV000219610 SCV000272787 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing The p.Pro26458Leu variant in TTN has not been previously reported in individuals with cardiomyopathy or large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, additional information is needed to fully assess t he clinical significance of the p.Pro26458Leu variant.
Fulgent Genetics, Fulgent Genetics RCV002485406 SCV002785483 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 2021-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000219610 SCV004020310 uncertain significance not specified 2023-06-26 criteria provided, single submitter clinical testing Variant summary: TTN c.79373C>T (p.Pro26458Leu) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-06 in 279496 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.79373C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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