ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=)

dbSNP: rs2085936509
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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 RCV001304578 SCV001493865 uncertain significance Atypical glycine encephalopathy 2020-12-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC6A9-related conditions. 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. This sequence change affects codon 607 of the SLC6A9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC6A9 protein.

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