ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1179G>A (p.Ala393=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003448607 SCV004176135 uncertain significance Spinocerebellar ataxia type 35 2023-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003732588 SCV004532017 uncertain significance not provided 2023-03-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with TGM6-related conditions. This variant is present in population databases (rs764278569, gnomAD 0.01%). This sequence change affects codon 393 of the TGM6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TGM6 protein.

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