ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)

gnomAD frequency: 0.00001  dbSNP: rs775743818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246473 SCV000319929 likely benign Cardiovascular phenotype 2019-05-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001216338 SCV001388130 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 23790 of the TTN protein (p.Arg23790Cys). This variant is present in population databases (rs775743818, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital myopathy (PMID: 25214167). ClinVar contains an entry for this variant (Variation ID: 264186). 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 A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 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.
GeneDx RCV001563433 SCV001786377 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001563433 SCV003824213 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing

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