ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)

gnomAD frequency: 0.00001  dbSNP: rs1182722973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319184 SCV001509916 uncertain significance not provided 2020-05-20 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LRP5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with serine at codon 1528 of the LRP5 protein (p.Tyr1528Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine.
Fulgent Genetics, Fulgent Genetics RCV005005168 SCV005630216 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 2024-06-21 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535737 SCV001749855 not provided Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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