ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)

gnomAD frequency: 0.00001  dbSNP: rs368779151
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185112 SCV000237937 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29109008)
Invitae RCV002516954 SCV003480447 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 35017 of the TTN protein (p.Thr35017Ala). This variant is present in population databases (rs368779151, gnomAD 0.04%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 29109008). This variant is also known as c.100126A>G (p.Thr33376Ala). ClinVar contains an entry for this variant (Variation ID: 203089). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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). 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 RCV000185112 SCV003820146 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000185112 SCV001924288 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000185112 SCV001963229 uncertain significance not provided no assertion criteria provided clinical testing

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