Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001450075 | SCV000816603 | likely benign | Wolman disease | 2024-12-19 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000730763 | SCV000858526 | uncertain significance | not provided | 2017-12-05 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001080631 | SCV001265190 | uncertain significance | Lysosomal acid lipase deficiency | 2018-01-13 | 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. |
| Ambry Genetics | RCV002360730 | SCV002664515 | uncertain significance | Cardiovascular phenotype | 2024-04-27 | criteria provided, single submitter | clinical testing | The p.D221G variant (also known as c.662A>G), located in coding exon 5 of the LIPA gene, results from an A to G substitution at nucleotide position 662. The aspartic acid at codon 221 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| Prevention |
RCV004535714 | SCV004117001 | uncertain significance | LIPA-related disorder | 2024-09-27 | no assertion criteria provided | clinical testing | The LIPA c.662A>G variant is predicted to result in the amino acid substitution p.Asp221Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.43% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, which is likely to frequent for a disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |