ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe)

gnomAD frequency: 0.00001  dbSNP: rs760604476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177495 SCV000229366 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
Invitae RCV001320439 SCV001511223 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 34009 of the TTN protein (p.Leu34009Phe). This variant is present in population databases (rs760604476, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 196650). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000177495 SCV004225775 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing

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