ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.901del (p.Val301fs)

dbSNP: rs1571013274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen 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-Nilou Lab RCV003338892 SCV004049095 likely pathogenic Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001380452 SCV004049096 likely pathogenic PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing

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