ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)

gnomAD frequency: 0.00010  dbSNP: rs368698752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592689 SCV000703088 uncertain significance not provided 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087938 SCV001003305 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000592689 SCV001913147 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377229 SCV002662802 likely benign Cardiovascular phenotype 2019-07-09 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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