Submissions for variant NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)

gnomAD frequency: 0.00622  dbSNP: rs77632964

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085047	SCV000766584	benign	PHGDH deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712535	SCV000843050	benign	not provided	2018-05-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085047	SCV001257742	benign	PHGDH deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000712535	SCV001982931	likely benign	not provided	2024-06-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genome-Nilou Lab	RCV003338713	SCV004049077	likely benign	Neu-Laxova syndrome 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001085047	SCV004049078	likely benign	PHGDH deficiency	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905741	SCV004724425	benign	PHGDH-related disorder	2021-06-30	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).