ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12024C>T (p.Leu4008=)

gnomAD frequency: 0.00037  dbSNP: rs371694842
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535864 SCV000642652 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597604 SCV000702067 likely benign not specified 2016-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001722487 SCV000730334 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840640 SCV002100858 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840641 SCV002100859 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840642 SCV002100860 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840639 SCV002100861 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448710 SCV002732605 likely benign Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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