ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32160C>T (p.Phe10720=)

gnomAD frequency: 0.00001  dbSNP: rs1020838415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431475 SCV001634232 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-10 criteria provided, single submitter clinical testing
GeneDx RCV004720023 SCV005325573 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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