ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)

gnomAD frequency: 0.00004  dbSNP: rs55634230
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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, Mass General Brigham Personalized Medicine RCV000040955 SCV000064646 uncertain significance not specified 2012-11-21 criteria provided, single submitter clinical testing The Val3250Gly variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant is listed in dbSNP (rs55634230) without frequency information. Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val3250 Gly variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. Additional information is needed to fully asses s the clinical significance of the Val3250Gly variant.
Invitae RCV000230763 SCV000286946 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001697033 SCV000721896 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28704380)
Ambry Genetics RCV002381322 SCV002695717 likely benign Cardiovascular phenotype 2020-09-21 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.

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