ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) (rs775743818)

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Total submissions: 2
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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 Other strong data supporting benign classification
Invitae RCV001216338 SCV001388130 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-06-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 23790 of the TTN protein (p.Arg23790Cys). There is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs775743818, ExAC 0.02%). This variant has been observed in an individual affected with congenital myopathy (PMID: 25214167). ClinVar contains an entry for this variant (Variation ID: 264186). 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). 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.

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