ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu)

gnomAD frequency: 0.00001  dbSNP: rs777364605
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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 RCV000219625 SCV000272727 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing The p.Pro19592Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/13560 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Com putational prediction tools and conservation analyses do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of the p.Pro19592Leu variant is uncertain.
Athena Diagnostics Inc RCV000714071 SCV000844738 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485404 SCV002777298 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 2021-09-01 criteria provided, single submitter clinical testing

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