ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.10559C>T (p.Ala3520Val)

gnomAD frequency: 0.00004  dbSNP: rs150113078
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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 RCV001971596 SCV002259953 uncertain significance not provided 2022-08-16 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 3520 of the LRP2 protein (p.Ala3520Val). This variant is present in population databases (rs150113078, gnomAD 0.003%). 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: 1477442). 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 C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002479641 SCV002798284 uncertain significance Donnai-Barrow syndrome 2022-01-19 criteria provided, single submitter clinical testing

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