ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)

gnomAD frequency: 0.00001  dbSNP: rs375572802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368733 SCV001565141 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 35590 of the TTN protein (p.His35590Arg). There is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs375572802, gnomAD 0.01%). 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: 1059450). 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.
Fulgent Genetics, Fulgent Genetics RCV002476681 SCV002783942 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136042 SCV003822218 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing

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