ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11811T>C (p.Pro3937=)

gnomAD frequency: 0.00005  dbSNP: rs571602215
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539817 SCV000642644 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001712507 SCV000714187 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000613900 SCV000855286 likely benign not specified 2018-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840636 SCV002100871 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840637 SCV002100872 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840638 SCV002100873 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840635 SCV002100875 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420449 SCV002723548 likely benign Cardiovascular phenotype 2019-11-08 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.
PreventionGenetics, part of Exact Sciences RCV004537978 SCV004732976 likely benign TTN-related disorder 2020-06-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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