ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3581G>A (p.Arg1194His)

gnomAD frequency: 0.00003  dbSNP: rs201017887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754942 SCV001994920 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously reported as pathogenic or benign in association with bone disease to our knowledge; This variant is associated with the following publications: (PMID: 31106028)
Labcorp Genetics (formerly Invitae), Labcorp RCV001754942 SCV003786530 uncertain significance not provided 2022-09-27 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 1194 of the LRP5 protein (p.Arg1194His). 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. This missense change has been observed in individual(s) with familial exudative vitreoretinopathy (PMID: 31106028). ClinVar contains an entry for this variant (Variation ID: 1309659). 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 not expected to disrupt 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.
Revvity Omics, Revvity RCV001754942 SCV003812753 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing

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