ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1801G>A (p.Asp601Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004014783 SCV004825634 uncertain significance Hypercholesterolemia, familial, 1 2023-05-16 criteria provided, single submitter clinical testing This missense variant (also known as p.Asp580Asn in the mature protein) replaces aspartic acid with asparagine at codon 601 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 1/251490 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801429 SCV005423395 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing Variant summary: LDLR c.1801G>A (p.Asp601Asn) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251490 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1801G>A in individuals affected with Familial Hypercholesterolemia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3071281). Based on the evidence outlined above, the variant was classified as uncertain significance.

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