ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12255T>C (p.Ile4085=)

gnomAD frequency: 0.04800  dbSNP: rs2742357
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Total submissions: 9
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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 RCV000041093 SCV000064784 benign not specified 2012-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000041093 SCV000169576 benign not specified 2012-10-19 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.
PreventionGenetics, part of Exact Sciences RCV000041093 SCV000307153 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000620728 SCV000734995 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Invitae RCV001511356 SCV001718581 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839801 SCV002100840 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839802 SCV002100842 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839803 SCV002100843 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839800 SCV002100844 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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