ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.7742C>T (p.Thr2581Met)

gnomAD frequency: 0.00001  dbSNP: rs372305097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117546 SCV000151764 uncertain significance not provided 2014-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000117546 SCV002956005 uncertain significance not provided 2022-03-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2581 of the LRP2 protein (p.Thr2581Met). This variant is present in population databases (rs372305097, gnomAD 0.02%). 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: 129538). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV005016402 SCV005652629 uncertain significance Donnai-Barrow syndrome 2024-05-15 criteria provided, single submitter clinical testing

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