Submissions for variant NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)

gnomAD frequency: 0.00002  dbSNP: rs576405108

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002462130	SCV002756866	uncertain significance	not provided	2022-05-10	criteria provided, single submitter	clinical testing	Observed with a second PUS3 variant in unrelated patients with clinical features including intellectual disability, brain abnormalities, hypotonia, and/or epilepsy in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in some cases (Aldinger et al., 2019; Nostvik et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31474318, 34415064)
Dobyns Lab, Seattle Children's Research Institute	RCV000779646	SCV000916325	likely pathogenic	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature	2019-02-18	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001258000	SCV001434813	likely pathogenic	Dandy-Walker syndrome		no assertion criteria provided	research