Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000359852 | SCV000361481 | uncertain significance | Phytanic acid storage disease | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV000430932 | SCV000514114 | uncertain significance | not provided | 2016-07-13 | criteria provided, single submitter | clinical testing | The N202K variant in the PHYH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N202K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N202K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N202K as a variant of uncertain significance. |
| Labcorp Genetics |
RCV000430932 | SCV001132001 | likely benign | not provided | 2025-01-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002520543 | SCV003569275 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.606C>A (p.N202K) alteration is located in exon 6 (coding exon 6) of the PHYH gene. This alteration results from a C to A substitution at nucleotide position 606, causing the asparagine (N) at amino acid position 202 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004816526 | SCV005073168 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |