ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.357-1G>A (rs766427173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001420191 SCV001622388 pathogenic Neu-Laxova syndrome 1 2020-12-07 criteria provided, single submitter clinical testing A heterozygous 3’splice site variation in intron 3 of the PHGDH gene that affects the invariant AG acceptor splice site upstream of exon 4 was detected. The observed variant c.3357-1G>A has not been reported in the 1000 genomes and has a minor allele frequency of 0.008% in the gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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