Submissions for variant NM_006623.4(PHGDH):c.834C>A (p.Val278=)

gnomAD frequency: 0.00051  dbSNP: rs147866831

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000309927	SCV000347888	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000309927	SCV001121552	benign	PHGDH deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820846	SCV002070254	likely benign	not specified	2021-02-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000309927	SCV001453145	benign	PHGDH deficiency	2019-10-28	no assertion criteria provided	clinical testing