ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9124G>A (p.Gly3042Arg)

gnomAD frequency: 0.00006  dbSNP: rs376039022
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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 RCV001884770 SCV002157948 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 LRP2 protein function. This variant has not been reported in the literature in individuals affected with LRP2-related conditions. This variant is present in population databases (rs376039022, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3042 of the LRP2 protein (p.Gly3042Arg).
Fulgent Genetics, Fulgent Genetics RCV002490159 SCV002803846 uncertain significance Donnai-Barrow syndrome 2022-05-09 criteria provided, single submitter clinical testing

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