ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.271_274del (p.Lys91fs)

dbSNP: rs2101155246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939702 SCV002229291 pathogenic PHGDH deficiency 2021-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys91Alafs*5) in the PHGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHGDH are known to be pathogenic (PMID: 14645240, 24836451). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PHGDH-related conditions. For these reasons, this variant has been classified as Pathogenic.

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