ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84945T>A (p.Thr28315=)

gnomAD frequency: 0.00002  dbSNP: rs768116404
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468778 SCV001672839 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000869250 SCV001940469 benign not provided 2016-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840767 SCV002102312 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840768 SCV002102313 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840769 SCV002102314 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840766 SCV002102315 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352561 SCV002653101 likely benign Cardiovascular phenotype 2020-07-21 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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