ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)

gnomAD frequency: 0.00004  dbSNP: rs368945564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727168 SCV000237936 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727168 SCV000706314 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331658 SCV001523749 uncertain significance Left ventricular noncompaction 2 2019-08-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001366707 SCV001563020 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 34993 of the TTN protein (p.Thr34993Met). This variant is present in population databases (rs368945564, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 203088). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is located in the M band of TTN (PMID: 25589632). Non-truncating variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000727168 SCV003819785 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing

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