ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003332807 SCV004040278 uncertain significance not provided 2023-02-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV003581928 SCV004359053 uncertain significance Familial hypercholesterolemia 2021-12-06 criteria provided, single submitter clinical testing This missense variant (also known as p.Asn636Ser in the mature protein) replaces asparagine with serine at codon 657 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 familial hypercholesterolemia in the literature. This variant has not been identified 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 RCV004009741 SCV004818474 uncertain significance Hypercholesterolemia, familial, 1 2023-05-08 criteria provided, single submitter clinical testing This missense variant (also known as p.Asn636Ser in the mature protein) replaces asparagine with serine at codon 657 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 familial hypercholesterolemia in the literature. This variant has not been identified 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.

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