ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp)

gnomAD frequency: 0.00002  dbSNP: rs879071113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795610 SCV000935078 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 34761 of the TTN protein (p.Arg34761Trp).  There is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. 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). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. 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.
PreventionGenetics, part of Exact Sciences RCV004538089 SCV004113560 uncertain significance TTN-related disorder 2023-09-06 criteria provided, single submitter clinical testing The TTN c.104281C>T variant is predicted to result in the amino acid substitution p.Arg34761Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179397061-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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