Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000372496 | SCV000338426 | likely benign | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000294629 | SCV000372938 | uncertain significance | Niemann-Pick disease, type A | 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. |
Labcorp Genetics |
RCV000889391 | SCV001033069 | benign | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001249053 | SCV001422999 | likely benign | Sphingomyelin/cholesterol lipidosis | 2020-01-22 | criteria provided, single submitter | curation | The c.1091+9C>T variant in SMPD1 has not been previously reported in individuals with Niemann-Pick disease, but has been identified in 0.317% (79/24926) of African chromosomes, 0.008% (3/35418) of Latino chromosomes, and 0.001% (1/127714) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs143612450). This variant has also been reported in ClinVar (VariationID: 285417) as a VUS by Illumina Clinical services Laboratory and as likely benign by EGL Genetic Diagnostics. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BS1, BP7, BP4 (Richards 2015). |
Natera, |
RCV000294629 | SCV002092262 | likely benign | Niemann-Pick disease, type A | 2017-05-05 | no assertion criteria provided | clinical testing |