ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1990G>A (p.Val664Met)

dbSNP: rs879255103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237822 SCV000295802 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV002519852 SCV003256791 uncertain significance Familial hypercholesterolemia 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 664 of the LDLR protein (p.Val664Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial hypercholesterolemia (PMID: 15199436). This variant is also known as V643M. ClinVar contains an entry for this variant (Variation ID: 252156). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
All of Us Research Program, National Institutes of Health RCV000237822 SCV004834408 uncertain significance Hypercholesterolemia, familial, 1 2024-01-11 criteria provided, single submitter clinical testing

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