ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.293C>A (p.Ala98Asp)

gnomAD frequency: 0.00001  dbSNP: rs1357664392
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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 RCV001326359 SCV001517388 uncertain significance not provided 2021-09-18 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 98 of the LRP5 protein (p.Ala98Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.
Fulgent Genetics, Fulgent Genetics RCV005050334 SCV005684293 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 2024-05-11 criteria provided, single submitter clinical testing

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