ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8844G>A (p.Ser2948=)

gnomAD frequency: 0.00004  dbSNP: rs531976829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722557 SCV000714367 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001405912 SCV001607856 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448849 SCV002682261 likely benign Cardiovascular phenotype 2020-02-05 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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