Submissions for variant NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)

dbSNP: rs587777483

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000675136	SCV000800720	uncertain significance	PHGDH deficiency; Neu-Laxova syndrome 1	2018-06-06	criteria provided, single submitter	clinical testing
GeneDx	RCV002222400	SCV002499788	pathogenic	not provided	2024-02-15	criteria provided, single submitter	clinical testing	Published functional studies demonstrate a damaging effect resulting in a significant reduction of enzyme catalytic activity (PMID: 33753166); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34645488, 34426522, 27475004, 15175111, 32516863, 24836451, 30214071, 26960553, 21981974, 32594192, 32579715, 36554045, 33753166)
Revvity Omics, Revvity	RCV002222400	SCV004238338	likely pathogenic	not provided	2023-06-21	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004019724	SCV005016560	uncertain significance	PHGDH deficiency	2024-03-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000675136	SCV005639453	likely pathogenic	PHGDH deficiency; Neu-Laxova syndrome 1	2024-05-23	criteria provided, single submitter	clinical testing
OMIM	RCV000128434	SCV000172115	pathogenic	Neu-Laxova syndrome 1	2014-06-05	no assertion criteria provided	literature only