ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.363del (p.Gln123fs)

dbSNP: rs781273456
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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 RCV001895959 SCV002155418 pathogenic PHGDH deficiency 2020-12-27 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gln123Argfs*6) 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 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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