Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731671 | SCV000859516 | uncertain significance | not provided | 2018-02-03 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104686 | SCV001261572 | uncertain significance | Lysosomal acid lipase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV002536467 | SCV003270585 | uncertain significance | Wolman disease | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2 of the LIPA protein (p.Lys2Asn). This variant is present in population databases (rs138408240, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 595978). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
New York Genome Center | RCV001104686 | SCV004046637 | uncertain significance | Lysosomal acid lipase deficiency | 2022-12-06 | criteria provided, single submitter | clinical testing |