ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003043620 SCV003345315 uncertain significance Familial hypercholesterolemia 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with phenylalanine, which is neutral and non-polar, at codon 225 of the LDLR protein (p.Lys225Phe). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with LDLR-related conditions. 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.

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