ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser)

gnomAD frequency: 0.00019  dbSNP: rs147981204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337660 SCV001531269 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 519 of the LRP2 protein (p.Pro519Ser). This variant is present in population databases (rs147981204, gnomAD 0.07%). 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: 975594). 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 RCV002480868 SCV002776697 uncertain significance Donnai-Barrow syndrome 2022-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570505 SCV003611234 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1555C>T (p.P519S) alteration is located in exon 12 (coding exon 12) of the LRP2 gene. This alteration results from a C to T substitution at nucleotide position 1555, causing the proline (P) at amino acid position 519 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252308 SCV001428060 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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