ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu)

gnomAD frequency: 0.00001  dbSNP: rs1170097065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802114 SCV000941930 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 647576). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 34876 of the TTN protein (p.Ser34876Leu). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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).
Revvity Omics, Revvity RCV003141799 SCV003825968 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing

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