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
Labcorp Genetics (formerly Invitae), Labcorp RCV000688075 SCV000815672 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-04-10 criteria provided, single submitter clinical testing 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 present in population databases (rs72629786, gnomAD 0.002%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 26567375). ClinVar contains an entry for this variant (Variation ID: 498937). 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). Non-truncating 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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