ClinVar Miner

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

gnomAD frequency: 0.00622  dbSNP: rs77632964
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085047 SCV000766584 benign PHGDH deficiency 2024-01-31 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 2023-05-26 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 criteria provided, single submitter 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).

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