ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1209+4C>T

gnomAD frequency: 0.00001  dbSNP: rs199611972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002024930 SCV002312700 uncertain significance PHGDH deficiency 2022-05-29 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the PHGDH gene. It does not directly change the encoded amino acid sequence of the PHGDH protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199611972, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1520226). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002479811 SCV002775567 uncertain significance PHGDH deficiency; Neu-Laxova syndrome 1 2021-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339904 SCV004049121 uncertain significance Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002024930 SCV004049122 uncertain significance PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing

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