ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29231G>A (p.Arg9744His)

gnomAD frequency: 0.00004  dbSNP: rs760305440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704894 SCV000237047 uncertain significance not provided 2020-06-02 criteria provided, single submitter clinical testing Reported in association with HCM (Arimura et al., 2009; Lopes et al., 2013); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 202550; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 23396983, 21135372, 24980681, 19608031)
Invitae RCV000642704 SCV000764391 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 9744 of the TTN protein (p.Arg9744His). This variant is present in population databases (rs760305440, gnomAD 0.003%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 19608031, 23396983). ClinVar contains an entry for this variant (Variation ID: 202550). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TTN function (PMID: 19608031). 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.
Fulgent Genetics, Fulgent Genetics RCV002500559 SCV002781036 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 2021-10-12 criteria provided, single submitter clinical testing

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