ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.774+2T>G

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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 RCV003337756 SCV004048015 likely pathogenic Hyperglycinuria criteria provided, single submitter clinical testing The splice site c.774+2T>G variant in SLC6A19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant affects the invariant splice site. The variant is novel (not in any individuals) in 1000 Genomes and in gnomAD. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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