ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)

gnomAD frequency: 0.00001  dbSNP: rs779464128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000997320 SCV000237944 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218623 SCV000272833 uncertain significance not specified 2015-09-28 criteria provided, single submitter clinical testing The p.Ile32563Val variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s779464128). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Ile32563Val variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001352152 SCV001546685 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 35131 of the TTN protein (p.Ile35131Val). This variant is present in population databases (rs779464128, gnomAD 0.003%). This missense change has been observed in individual(s) with left ventricular noncompaction cardiomyopathy (PMID: 33500567). ClinVar contains an entry for this variant (Variation ID: 203094). 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.

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