ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21114A>C (p.Ser7038=)

dbSNP: rs879237670
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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 RCV001341614 SCV001535495 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with distal myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 1038321). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This sequence change affects codon 7038 of the TTN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTN protein. It affects a nucleotide within the consensus splice site.

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