ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4783G>A (p.Ala1595Thr)

gnomAD frequency: 0.00003  dbSNP: rs371285818
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239383 SCV001412256 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRP5 protein function. ClinVar contains an entry for this variant (Variation ID: 965030). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs371285818, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1595 of the LRP5 protein (p.Ala1595Thr).
Ambry Genetics RCV004986994 SCV005614479 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The c.4783G>A (p.A1595T) alteration is located in exon 23 (coding exon 23) of the LRP5 gene. This alteration results from a G to A substitution at nucleotide position 4783, causing the alanine (A) at amino acid position 1595 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005111 SCV005630224 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-01-11 criteria provided, single submitter 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.