ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89229C>T (p.Ile29743=)

gnomAD frequency: 0.00004  dbSNP: rs376853821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535376 SCV000643864 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591202 SCV000707430 likely benign not specified 2017-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358531 SCV002655340 likely benign Cardiovascular phenotype 2020-11-12 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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