ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)

gnomAD frequency: 0.00008  dbSNP: rs777730098
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301709 SCV000341562 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV001085923 SCV000555188 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000301709 SCV001812918 likely benign not provided 2019-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165754 SCV003883271 likely benign Cardiovascular phenotype 2022-12-23 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.
PreventionGenetics, part of Exact Sciences RCV003920129 SCV004737278 likely benign TTN-related condition 2019-05-24 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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