Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186084 | SCV000239108 | uncertain significance | not provided | 2022-05-21 | 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 |
Illumina Laboratory Services, |
RCV000380145 | SCV000382008 | uncertain significance | Propionic acidemia | 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. |
Invitae | RCV000380145 | SCV001696437 | likely benign | Propionic acidemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002513960 | SCV003569967 | uncertain significance | Inborn genetic diseases | 2022-03-21 | criteria provided, single submitter | clinical testing | The c.328G>C (p.V110L) alteration is located in exon 5 (coding exon 5) of the PCCA gene. This alteration results from a G to C substitution at nucleotide position 328, causing the valine (V) at amino acid position 110 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000380145 | SCV001455842 | uncertain significance | Propionic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing |