ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1536+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317692 SCV004020433 likely pathogenic Atypical glycine encephalopathy 2023-06-23 criteria provided, single submitter clinical testing Variant summary: SLC6A9 c.1755+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. The variant allele was found at a frequency of 1.7e-05 in 241234 control chromosomes. To our knowledge, no occurrence of c.1755+1G>A in individuals affected with Atypical Glycine Encephalopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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