ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.372G>A (p.Ala124=)

gnomAD frequency: 0.00005  dbSNP: rs146740411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399224 SCV000347881 uncertain significance PHGDH deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000399224 SCV001105099 likely benign PHGDH deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897664 SCV004715164 likely benign PHGDH-related disorder 2022-11-21 criteria provided, single submitter 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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