ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser)

gnomAD frequency: 0.00002  dbSNP: rs776554205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325778 SCV001516783 uncertain significance not provided 2023-04-12 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1025464). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs776554205, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 943 of the LRP5 protein (p.Pro943Ser).
Fulgent Genetics, Fulgent Genetics RCV002504510 SCV002816848 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2021-10-06 criteria provided, single submitter clinical testing

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