ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)

gnomAD frequency: 0.00010  dbSNP: rs372716177
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Total submissions: 6
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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 RCV000040923 SCV000064614 uncertain significance not specified 2012-04-19 criteria provided, single submitter clinical testing The Arg31678His variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. This variant has been identif ied in 0.01% (1/6620) of European American chromosomes from a broad population b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP ) ; however, this frequency is too low to rule out a disease causing role. In summ ary, additional information is needed to fully assess the clinical significance of the Arg31678His variant.
Invitae RCV000462618 SCV000555335 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001703916 SCV000713901 benign not provided 2019-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Genetics and Genomics Program,Sidra Medicine RCV001293170 SCV001434167 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Clinical Genetics, Academic Medical Center RCV000040923 SCV001922824 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703916 SCV001973706 likely benign not provided no assertion criteria provided clinical testing

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