ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln)

gnomAD frequency: 0.00001  dbSNP: rs760849988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960138 SCV002211252 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 35889 of the TTN protein (p.Lys35889Gln). There is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs760849988, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. 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).

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