ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101890C>T (p.Arg33964Cys)

dbSNP: rs779064623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727717 SCV000855069 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000727717 SCV001991709 uncertain significance not provided 2022-12-01 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; This variant is associated with the following publications: (PMID: 26582918)
Revvity Omics, Revvity RCV000727717 SCV003825890 uncertain significance not provided 2019-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411666 SCV004115262 uncertain significance TTN-related condition 2022-12-10 criteria provided, single submitter clinical testing The TTN c.101890C>T variant is predicted to result in the amino acid substitution p.Arg33964Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179399452-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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