Submissions for variant NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)

gnomAD frequency: 0.00064  dbSNP: rs201298102

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884799	SCV001028200	benign	PHGDH deficiency	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001779093	SCV002015796	likely benign	not provided	2021-06-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV003338839	SCV004049106	likely benign	Neu-Laxova syndrome 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000884799	SCV004049107	likely benign	PHGDH deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000884799	SCV001453146	benign	PHGDH deficiency	2020-05-02	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004757301	SCV005363615	likely benign	PHGDH-related disorder	2024-09-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).