ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5289T>G (p.Asp1763Glu)

gnomAD frequency: 0.00001  dbSNP: rs1325498080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764892 SCV001989406 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Revvity Omics, Revvity RCV001764892 SCV004237017 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001764892 SCV005622110 uncertain significance not provided 2024-08-22 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein.

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