ClinVar Miner

Submissions for variant NM_002336.3(LRP6):c.1750C>T (p.His584Tyr)

gnomAD frequency: 0.00001  dbSNP: rs756283420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858447 SCV002274767 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 684469). This variant has not been reported in the literature in individuals affected with LRP6-related conditions. This variant is present in population databases (rs756283420, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 584 of the LRP6 protein (p.His584Tyr).
GenomeConnect, ClinGen RCV000844943 SCV000986761 not provided Coronary artery disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05/09/2016 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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