ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.2639C>T (p.Ala880Val)

gnomAD frequency: 0.00011  dbSNP: rs761993567
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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 RCV001925751 SCV002180752 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 880 of the LRP2 protein (p.Ala880Val). This variant is present in population databases (rs761993567, gnomAD 0.03%). 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: 1413194). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002484479 SCV002780486 uncertain significance Donnai-Barrow syndrome 2021-12-30 criteria provided, single submitter clinical testing

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