ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) (rs72658865)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238082 SCV000295674 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000238082 SCV000540901 likely benign Familial hypercholesterolemia 1 2017-03-23 criteria provided, single submitter clinical testing
Color RCV000775078 SCV000909181 uncertain significance Familial hypercholesterolemia 2019-04-02 criteria provided, single submitter clinical testing
Invitae RCV000775078 SCV000949990 uncertain significance Familial hypercholesterolemia 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 606 of the LDLR protein (p.Ala606Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs72658865, ExAC 0.04%). This variant has been observed in individuals affected with familial hypercholesterolemia (PMID: 23340035, 19318025). This variant is also known as p.Ala585Thr in the literature. ClinVar contains an entry for this variant (Variation ID: 252046). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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