ClinVar Miner

Submissions for variant NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)

gnomAD frequency: 0.00015  dbSNP: rs77655188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV001836861 SCV001294702 benign Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001836861 SCV001603644 likely benign Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 2020-08-07 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678798 SCV000804979 uncertain significance Infantile spasms 2017-08-03 no assertion criteria provided clinical testing

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