ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.323C>A (p.Thr108Lys)

dbSNP: rs750126678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044316 SCV001208107 uncertain significance Familial hypercholesterolemia 2022-01-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 108 of the LDLR protein (p.Thr108Lys). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 841986). This variant has not been reported in the literature in individuals affected with LDLR-related conditions.

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