ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.250G>A (p.Glu84Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Pediatric Genetics Laboratory, Hacettepe University RCV002464549 SCV002524164 uncertain significance Atypical glycine encephalopathy 2022-06-08 no assertion criteria provided clinical testing The affected three fetuses exhibited a similar phenotypes including short neck, thoracic kyphosis, hypertrichosis, joint contractures and dislocations, hypertonia, knee hyperextension and facial dysmorphic features. The SLC6A9 variant is classified as “VUS” according to ACMG 2015 criteria and the CADD score was calculated as 27.7.

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