ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) (rs372716177)

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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 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 (; 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; Limb-girdle muscular dystrophy, type 2J 2020-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000040923 SCV000713901 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetics and Genomics Program,Sidra Medicine RCV001293170 SCV001434167 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research

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