Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725750 | SCV000339143 | pathogenic | not provided | 2018-03-22 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000003057 | SCV000731534 | likely pathogenic | Chylomicron retention disease | 2017-07-28 | criteria provided, single submitter | clinical testing | The p.Asp137Asn (NM_001033503.2 c.409G>A) variant in SAR1B has been reported in at least 5 homozygous and 3 compound heterozygous individuals of French Canadian or White Canadian ancestry with Chylomicron retention disease and segregated in 5 family members (Charcosset 2008, Peretti 2009, and Jones 2003). This variant has also been reported in ClinVar (Variation ID#2923). This variant has been ide ntified in 0.004% (2/53,150) of European chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28942109). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tool s and conservation analysis suggest that the p.Asp137Asn variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, although additional studies are required to fully establish it s clinical significance, the p.Asp137Asn variant is likely pathogenic based upon biallelic case observations and segregation in affected individuals. |
Revvity Omics, |
RCV000003057 | SCV002019120 | likely pathogenic | Chylomicron retention disease | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725750 | SCV004292853 | pathogenic | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2923). This missense change has been observed in individuals with Anderson's disease and/or chylomicron retention disease (PMID: 12692552, 17945526). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs28942109, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 137 of the SAR1B protein (p.Asp137Asn). |
OMIM | RCV000003057 | SCV000023215 | pathogenic | Chylomicron retention disease | 2008-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003057 | SCV002318918 | not provided | Chylomicron retention disease | no assertion provided | literature only |