ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala)

gnomAD frequency: 0.00003  dbSNP: rs745999025
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Total submissions: 5
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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 RCV000221815 SCV000272659 uncertain significance not specified 2016-03-02 criteria provided, single submitter clinical testing The p.Val13552Ala variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/9786 of African chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein. In summary, the clinical significance of the p.Val13552Ala variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000643417 SCV000765104 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001753650 SCV001987477 uncertain significance not provided 2025-03-07 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; This variant is associated with the following publications: (PMID: 33500567)
Revvity Omics, Revvity RCV001753650 SCV003819018 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000221815 SCV006087218 uncertain significance not specified 2025-05-28 criteria provided, single submitter clinical testing Variant summary: TTN c.40655T>C (p.Val13552Ala) results in a non-conservative amino acid change in the encoded protein sequence. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change. The variant allele was found at a frequency of 4e-06 in 248076 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.40655T>C has been observed in the presumed heterozygous state in at least 1 individual(s) affected with left ventricular noncompaction (Mazzarotto_2021). These report(s) do not provide unequivocal conclusions about association of the variant with TTN-related conditions. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33500567). ClinVar contains an entry for this variant (Variation ID: 229441). Based on the evidence outlined above, the variant was classified as uncertain significance.

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