ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.12494G>A (p.Arg4165His)

dbSNP: rs201763999
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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 RCV001952054 SCV002192338 uncertain significance not provided 2022-07-26 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 4165 of the LRP2 protein (p.Arg4165His). This variant is present in population databases (rs201763999, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418307). 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 LRP2 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.
Fulgent Genetics, Fulgent Genetics RCV002491902 SCV002776925 uncertain significance Donnai-Barrow syndrome 2022-03-11 criteria provided, single submitter clinical testing

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