Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994083 | SCV001147397 | likely pathogenic | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001380452 | SCV001578533 | pathogenic | PHGDH deficiency | 2021-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 806198). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val301Phefs*7) 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). |
Genome- |
RCV003338892 | SCV004049095 | likely pathogenic | Neu-Laxova syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001380452 | SCV004049096 | likely pathogenic | PHGDH deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |