ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1572_1575dup (p.Thr526fs)

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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 RCV003084027 SCV003468794 uncertain significance PHGDH deficiency 2022-04-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr526Cysfs*3) in the PHGDH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the PHGDH protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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