ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8020G>A (p.Glu2674Lys)

gnomAD frequency: 0.00001  dbSNP: rs763170196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899030 SCV002174723 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2674 of the LRP2 protein (p.Glu2674Lys). This variant is present in population databases (rs763170196, gnomAD 0.005%). 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: 1404514). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002503551 SCV002775983 uncertain significance Donnai-Barrow syndrome 2022-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641763 SCV005137960 uncertain significance Inborn genetic diseases 2024-03-28 criteria provided, single submitter clinical testing The c.8020G>A (p.E2674K) alteration is located in exon 43 (coding exon 43) of the LRP2 gene. This alteration results from a G to A substitution at nucleotide position 8020, causing the glutamic acid (E) at amino acid position 2674 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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