ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys)

gnomAD frequency: 0.00001  dbSNP: rs727504977
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Total submissions: 4
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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 RCV000156390 SCV000206108 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Glu32454Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analyses do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinical significance of this variant.
CeGaT Center for Human Genetics Tuebingen RCV000997323 SCV001152577 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001857541 SCV002170711 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs727504977, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 35022 of the TTN protein (p.Glu35022Lys). This variant has not been reported in the literature in individuals affected with TTN-related conditions. 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. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 179596).
Revvity Omics, Revvity RCV000997323 SCV003822265 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing

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