ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)

gnomAD frequency: 0.00001  dbSNP: rs952475900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001859493 SCV002222012 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-06-17 criteria provided, single submitter clinical testing 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: 265825). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 29253866). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 35468 of the TTN protein (p.Leu35468His).
Fulgent Genetics, Fulgent Genetics RCV002479992 SCV002777302 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-25 criteria provided, single submitter clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen RCV000490941 SCV000298141 uncertain significance Dilated cardiomyopathy 1S 2016-05-01 no assertion criteria provided clinical testing

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