ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1435A>C (p.Asn479His)

gnomAD frequency: 0.00003  dbSNP: rs771749233
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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 RCV001925476 SCV002168274 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 479 of the LRP2 protein (p.Asn479His). This variant is present in population databases (rs771749233, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. 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. 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 RCV002490221 SCV002782265 uncertain significance Donnai-Barrow syndrome 2024-06-19 criteria provided, single submitter clinical testing

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