ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg)

gnomAD frequency: 0.00001  dbSNP: rs368714667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642765 SCV000764452 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 31228 of the TTN protein (p.Lys31228Arg). There is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs368714667, ExAC 0.002%). This variant has not been reported in the literature in individuals with TTN-related disease. This variant identified in the TTN gene is located in the A band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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