ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala)

gnomAD frequency: 0.00001  dbSNP: rs754368714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608815 SCV000731416 uncertain significance not specified 2017-02-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser8775Ala va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 3/66736 European chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754368714). Serine (Ser) at position 8775 is not conserved in evolutionarily distant species and 11 fish species carry an alanine (Ala), raising the possibility that this change m ay be tolerated. Additional computational prediction tools suggest that the p.Se r8774Ala variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, while the clinical signific ance of the p.Ser8775Ala variant is uncertain, its lack of conservation in evolu tionarily distant species suggests that it is more likely to be benign.
Revvity Omics, Revvity RCV003139930 SCV003822196 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003432652 SCV004117997 uncertain significance TTN-related condition 2023-07-19 criteria provided, single submitter clinical testing The TTN c.30055T>G variant is predicted to result in the amino acid substitution p.Ser10019Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179569042-A-C). 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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