ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78283C>G (p.Pro26095Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137038 SCV003822986 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003137038 SCV004229402 uncertain significance not provided 2023-06-15 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 higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005060975 SCV005725874 uncertain significance not specified 2024-11-29 criteria provided, single submitter clinical testing Variant summary: TTN c.70579C>G (p.Pro23527Ala), corresponding to c.78283C>G (p.Pro26095Ala) in NM_001267550, results in a non-conservative amino acid change located in the A band of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 248792 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.70579C>G has been reported in the literature in at least one individual affected with Hypertrophic Cardiomyopathy (e.g. Campuzano_2015, Mademont-Soler_2017, Martinez-Barrios_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26516846, 28771489, 35207729). ClinVar contains an entry for this variant (Variation ID: 2437872). Based on the evidence outlined above, the variant was classified as uncertain significance.

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