ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) (rs373065549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154968 SCV000204650 uncertain significance not specified 2014-03-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro8152Leu vari ant in TTN has not been previously reported in indivdiuals with cardiomyopathy, but has been identified in 0.1% (4/3920) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Proline (Pro ) at position 8152 is not conserved in evolution and several birds (budgerigar, parrot, scarlet macaw) carry a leucine (Leu) at this position, supporting that t his change may be tolerated. Computational prediction tools also suggest that th is variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. While the presence of the variant amino acid in other species supports that the Pro8152Leu variant is less likely to be disea se-causing, additional studies are needed to fully assess its clinical significa nce.
Invitae RCV000556673 SCV000642924 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-09 criteria provided, single submitter clinical testing
GeneDx RCV001719968 SCV000729232 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769901 SCV000901327 uncertain significance Cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing

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