ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)

dbSNP: rs727504205
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154088 SCV000203734 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680135 SCV000807579 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 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory In trans with a frameshift variant in an 8-year-old male with congenital myopathy, hypotonia, hyperextensibility, scapular winging, weakness, joint laxity, ankle contractures, type I fiber predominance on muscle biopsy, family history of a brother with a similar phenotype (also compound heterozygous)
Invitae RCV000812622 SCV000952941 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 8297 of the TTN protein (p.Trp8297Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal recessive limb-girdle muscular dystrophy and/or congenital myopathy (PMID: 32528171, 33146414; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.21159G>T p.W7053C. ClinVar contains an entry for this variant (Variation ID: 167799). 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 I band of TTN (PMID: 25589632). Non-truncating variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). 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.
Revvity Omics, Revvity Omics RCV000154088 SCV004236994 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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