ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly)

gnomAD frequency: 0.00027  dbSNP: rs149459699
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, Inc. RCV001828227 SCV002088958 uncertain significance Lysosomal acid lipase deficiency 2020-10-14 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.