ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp)

gnomAD frequency: 0.00003  dbSNP: rs879247634
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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 RCV000459429 SCV000542855 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-10 criteria provided, single submitter clinical testing
GeneDx RCV005230371 SCV005874350 uncertain significance not provided 2024-08-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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