Submissions for variant NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)

gnomAD frequency: 0.00030  dbSNP: rs182600362

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880956	SCV001024089	likely benign	PHGDH deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000880956	SCV001255495	likely benign	PHGDH deficiency	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV003338837	SCV004049051	likely benign	Neu-Laxova syndrome 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000880956	SCV004049052	likely benign	PHGDH deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000880956	SCV001463180	uncertain significance	PHGDH deficiency	2020-02-13	no assertion criteria provided	clinical testing