ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

gnomAD frequency: 0.00001  dbSNP: rs897518524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002550711 SCV003242858 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-05-19 criteria provided, single submitter clinical testing This sequence change affects codon 31591 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. 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.
CeGaT Center for Human Genetics Tuebingen RCV000997352 SCV001152646 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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