Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001138967 | SCV001299062 | uncertain significance | Pigmentary pallidal degeneration | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001772184 | SCV001992014 | uncertain significance | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30212743, 32581362) |
Neuberg Centre For Genomic Medicine, |
RCV001138967 | SCV002072999 | uncertain significance | Pigmentary pallidal degeneration | criteria provided, single submitter | clinical testing | The missense variant p.K478E in PANK2 (NM_153638.4) has been recently reported in a patient with disorder within the neurodevelopmental domain but no details are available for independent assesment (Turro E et al, 2020). The missense variant c.1432A>G (p.K478E) in PANK2 (NM_153638.4) is observed in 37/30616 (0.1209%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. The variant has been submitted to ClinVar with varying interpretations of pathogenicity :Uncertain Significance/Likely Pathogenic. The p.K478E missense variant is predicted to be damaging by both SIFT and PolyPhen2. The lysine residue at codon 478 of PANK2 is conserved in all mammalian species. The nucleotide c.1432 in PANK2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. | |
Fulgent Genetics, |
RCV002479198 | SCV002785476 | uncertain significance | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001772184 | SCV003812300 | uncertain significance | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001138967 | SCV004183429 | likely pathogenic | Pigmentary pallidal degeneration | 2023-09-13 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV001003627 | SCV001162054 | likely pathogenic | Dystonic disorder | no assertion criteria provided | research |