ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly)

gnomAD frequency: 0.00001  dbSNP: rs1168744166
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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 RCV000643010 SCV000764697 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-09 criteria provided, single submitter clinical testing
GeneDx RCV004723023 SCV005333050 uncertain significance not provided 2023-04-12 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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