ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)

gnomAD frequency: 0.00026  dbSNP: rs191263181
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721162 SCV000237581 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000184854 SCV000616148 uncertain significance not specified 2017-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529796 SCV000643709 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 26149 of the TTN protein (p.Thr26149Ser). There is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs191263181, ExAC 0.06%). This variant has not been reported in the literature in individuals with a TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 202889). 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 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, this variant has uncertain impact on TTN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002345655 SCV002646537 likely benign Cardiovascular phenotype 2020-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Revvity Omics, Revvity RCV001721162 SCV003826674 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing

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