ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1A>G (p.Met1Val)

dbSNP: rs1331155296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930502 SCV002194208 pathogenic PHGDH deficiency 2023-08-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PHGDH mRNA. The next in-frame methionine is located at codon 96. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1414498). Disruption of the initiator codon has been observed in individual(s) with Neu–Laxova syndrome (PMID: 30838783). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005006219 SCV005641174 pathogenic PHGDH deficiency; Neu-Laxova syndrome 1 2024-04-29 criteria provided, single submitter clinical testing

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