ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11416A>G (p.Thr3806Ala)

gnomAD frequency: 0.00002  dbSNP: rs373490312
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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 RCV001938490 SCV002197063 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3806 of the LRP2 protein (p.Thr3806Ala). This variant is present in population databases (rs373490312, gnomAD 0.02%). 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 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 RCV002503606 SCV002792661 uncertain significance Donnai-Barrow syndrome 2024-04-08 criteria provided, single submitter clinical testing

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