ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1697G>A (p.Arg566His)

gnomAD frequency: 0.00001  dbSNP: rs587783024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512560 SCV003001305 uncertain significance not provided 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 566 of the LRP5 protein (p.Arg566His). 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 expected to disrupt LRP5 protein function. ClinVar contains an entry for this variant (Variation ID: 156394). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144476 SCV000189611 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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