ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9902G>T (p.Gly3301Val)

dbSNP: rs1687468158
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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 RCV001952717 SCV002208641 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 3301 of the LRP2 protein (p.Gly3301Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). 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 RCV005016881 SCV005653114 uncertain significance Donnai-Barrow syndrome 2024-04-27 criteria provided, single submitter clinical testing

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