ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val)

dbSNP: rs1558955770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727807 SCV000855224 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV001868926 SCV002256306 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-03-13 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 592896). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 35906 of the TTN protein (p.Ile35906Val). There is a small physicochemical difference between isoleucine and valine.

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