ClinVar Miner

Submissions for variant NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr)

dbSNP: rs2072505076
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001095802 SCV002053904 likely pathogenic Liberfarb syndrome criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001095802 SCV002072899 pathogenic Liberfarb syndrome criteria provided, single submitter clinical testing The missense variant p.C300Y in PISD (NM_001326411.1) has been previously reported in affected patients and C266Y (Girisha KM et al; Zhao T et al).Functional analysis revealed a damaging effect. The p.C300Y variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.C300Y missense variant is predicted to be damaging by both SIFT and PolyPhen2. The cysteine residue at codon 300 of PISD is conserved in all mammalian species. The nucleotide c.899 in PISD is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001095802 SCV001251646 pathogenic Liberfarb syndrome 2020-05-20 no assertion criteria provided literature only

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