ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)

gnomAD frequency: 0.00064  dbSNP: rs201298102
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884799 SCV001028200 benign PHGDH deficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001779093 SCV002015796 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003338839 SCV004049106 likely benign Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000884799 SCV004049107 likely benign PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000884799 SCV001453146 benign PHGDH deficiency 2020-05-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004757301 SCV005363615 likely benign PHGDH-related disorder 2024-09-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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