ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.31-6251A>G

dbSNP: rs1450790373
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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 RCV002922823 SCV003263623 uncertain significance Atypical glycine encephalopathy 2023-03-16 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. ClinVar contains an entry for this variant (Variation ID: 2053846). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change affects the initiator methionine of the SLC6A9 mRNA. The next in-frame methionine is located at codon 15.

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