ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)

gnomAD frequency: 0.00007  dbSNP: rs727503652
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Total submissions: 7
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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 RCV000152410 SCV000201435 uncertain significance not specified 2013-10-15 criteria provided, single submitter clinical testing The Gly3524Ser variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. Additional inf ormation is needed to fully assess the clinical significance of the Gly3524Ser v ariant.
GeneDx RCV000152410 SCV000238195 likely benign not specified 2018-02-12 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.
Eurofins Ntd Llc (ga) RCV000725300 SCV000335822 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Invitae RCV000560224 SCV000642691 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381481 SCV002693273 likely benign Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity RCV000725300 SCV003826711 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486683 SCV004239826 likely benign Cardiomyopathy 2023-03-21 criteria provided, single submitter clinical testing

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