ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)

gnomAD frequency: 0.00001  dbSNP: rs374138859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540826 SCV000643286 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-25 criteria provided, single submitter clinical testing This sequence change affects codon 16716 of the TTN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTN protein. This variant is present in population databases (rs374138859, ExAC 0.009%) but has not been reported in the literature in individuals with a 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 alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003139802 SCV003827939 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278897 SCV004005997 likely benign Cardiovascular phenotype 2023-05-06 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.
GeneDx RCV003139802 SCV004022829 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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