ClinVar Miner

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

gnomAD frequency: 0.00030  dbSNP: rs182600362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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