ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)

gnomAD frequency: 0.00001  dbSNP: rs376029089
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707761 SCV000718953 uncertain significance not provided 2019-10-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000643800 SCV000765487 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331042 SCV002632295 likely benign Cardiovascular phenotype 2020-06-10 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.
Revvity Omics, Revvity RCV001707761 SCV003827296 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing

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