ClinVar Miner

Submissions for variant NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)

dbSNP: rs1565583382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000714510 SCV000996451 likely pathogenic Intellectual developmental disorder with macrocephaly, seizures, and speech delay 2019-02-20 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Intellectual developmental disorder with macrocephaly, seizures, and speech delay, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM6, PS3.
OMIM RCV000714510 SCV000845200 pathogenic Intellectual developmental disorder with macrocephaly, seizures, and speech delay 2018-10-31 no assertion criteria provided literature only
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV004569406 SCV004175135 pathogenic not provided 2021-02-01 no assertion criteria provided clinical testing

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