ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1957G>A (p.Val653Ile)

gnomAD frequency: 0.00001  dbSNP: rs879255085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773556 SCV000907250 uncertain significance Familial hypercholesterolemia 2019-04-02 criteria provided, single submitter clinical testing This missense variant (also known as p.Val632Ile in the mature protein) is located in the sixth LDLR type B repeat of the EGF precursor homology domain of the LDLR protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 1/31398 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004000021 SCV004818473 uncertain significance Hypercholesterolemia, familial, 1 2023-06-28 criteria provided, single submitter clinical testing This missense variant (also known as p.Val632Ile in the mature protein) is located in the sixth LDLR type B repeat of the EGF precursor homology domain of the LDLR protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 1/31398 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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