ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.64G>T (p.Ala22Ser)

gnomAD frequency: 0.00002  dbSNP: rs942568624
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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 RCV000775622 SCV000909986 uncertain significance Familial hypercholesterolemia 2023-06-28 criteria provided, single submitter clinical testing This missense variant (also known as p.Ala1Ser in the mature protein) replaces alanine with serine at codon 22 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 2/243962 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The 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 RCV004001460 SCV004820108 uncertain significance Hypercholesterolemia, familial, 1 2023-07-10 criteria provided, single submitter clinical testing This missense variant (also known as p.Ala1Ser in the mature protein) is located in the first LDLR type A repeat of the ligand binding 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 the variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 2/243962 chromosomes in the general population 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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