ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96051A>G (p.Ala32017=)

gnomAD frequency: 0.00008  dbSNP: rs367805587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698300 SCV000533292 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Invitae RCV001430934 SCV001633683 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365558 SCV002666136 likely benign Cardiovascular phenotype 2018-09-29 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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