Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001810638 | SCV001474580 | uncertain significance | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing | The PEX7 c.234C>A; p.Asn78Lys variant (rs560350898), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the South Asian population with an allele frequency of 0.069% (21/30616 alleles) in the Genome Aggregation Database. The asparagine at codon 78 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asn78Lys variant is uncertain at this time. |
Invitae | RCV001470243 | SCV001674338 | likely benign | Peroxisome biogenesis disorder 9B | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447255 | SCV002732661 | uncertain significance | Inborn genetic diseases | 2021-09-09 | criteria provided, single submitter | clinical testing | The p.N78K variant (also known as c.234C>A), located in coding exon 3 of the PEX7 gene, results from a C to A substitution at nucleotide position 234. The asparagine at codon 78 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001810638 | SCV003842728 | uncertain significance | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |