ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu)

dbSNP: rs72629786
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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) RCV000596565 SCV000704202 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV000688075 SCV000815672 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-24 criteria provided, single submitter clinical testing 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: 498937). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 26567375). This variant is present in population databases (rs72629786, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 34653 of the TTN protein (p.Arg34653Leu). 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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