Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000340608 | SCV000339682 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001325698 | SCV001516701 | uncertain significance | Wolman disease | 2022-07-02 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 349 of the LIPA protein (p.Asp349Gly). This variant is present in population databases (rs149459699, gnomAD 0.07%). 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: 286308). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Ambry Genetics | RCV004021199 | SCV004899217 | uncertain significance | Cardiovascular phenotype | 2021-08-09 | criteria provided, single submitter | clinical testing | The c.1046A>G (p.D349G) alteration is located in exon 10 (coding exon 9) of the LIPA gene. This alteration results from a A to G substitution at nucleotide position 1046, causing the aspartic acid (D) at amino acid position 349 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001828227 | SCV002088958 | uncertain significance | Lysosomal acid lipase deficiency | 2020-10-14 | no assertion criteria provided | clinical testing |