ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)

gnomAD frequency: 0.00001  dbSNP: rs531281558
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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 RCV000220591 SCV000272756 uncertain significance not specified 2016-01-14 criteria provided, single submitter clinical testing The p.Pro22426Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/11538 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs5 31281558). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Pro22426Leu variant is uncertain.
Ambry Genetics RCV002338687 SCV002638689 likely benign Cardiovascular phenotype 2020-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503865 SCV002814313 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 2021-07-21 criteria provided, single submitter clinical testing

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