ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1537-1_1538dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004723724 SCV005329494 uncertain significance Atypical glycine encephalopathy 2023-05-20 criteria provided, single submitter clinical testing The observed inframe insertion c.1537-1_1538dup(p.Phe512_Phe513insLeu) variant in SLC6A9 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The insertion of amino acid Leu between amino acids Phe at position 512 and Phe at position 513 changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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