Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV001823559 | SCV002073081 | uncertain significance | Lysosomal acid lipase deficiency | criteria provided, single submitter | clinical testing | The missense variant p.D309Y in LIPA (NM_000235.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D309Y variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.D309Y missense variant is predicted to be damaging by both SIFT and PolyPhen2. The aspartic acid residue at codon 309 of LIPA is conserved in all mammalian species. The nucleotide c.925 in LIPA is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance |