ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.551G>A (p.Ser184Asn)

gnomAD frequency: 0.00008  dbSNP: rs142649952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277812 SCV002564929 uncertain significance Osteogenesis imperfecta 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560919 SCV004278243 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 184 of the LRP5 protein (p.Ser184Asn). This variant is present in population databases (rs142649952, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1702027). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRP5 protein function. 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 RCV004047518 SCV004899361 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.551G>A (p.S184N) alteration is located in exon 3 (coding exon 3) of the LRP5 gene. This alteration results from a G to A substitution at nucleotide position 551, causing the serine (S) at amino acid position 184 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050554 SCV005684302 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 2024-01-08 criteria provided, single submitter clinical testing

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