ClinVar Miner

Submissions for variant NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389373 SCV004101496 uncertain significance Autosomal recessive congenital ichthyosis 10 criteria provided, single submitter clinical testing The missense variant p.P163T in PNPLA1 (NM_001145717.1) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.The p.P163T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.P163T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The proline residue at codon 163 of PNPLA1 is conserved in all mammalian species. The nucleotide c.487 in PNPLA1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates.For these reasons, this variant has been classified as Uncertain Significance

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