ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1593C>G (p.Ser531Arg)

dbSNP: rs148996947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589729 SCV001814322 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001589729 SCV002134707 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 531 of the LRP2 protein (p.Ser531Arg). This variant is present in population databases (rs148996947, gnomAD 0.01%). 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: 1213141). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002495938 SCV002778063 uncertain significance Donnai-Barrow syndrome 2021-12-22 criteria provided, single submitter clinical testing

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