ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1417A>G (p.Ile473Val)

dbSNP: rs879254894
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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 RCV000237941 SCV000295419 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237941 SCV000322951 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles
All of Us Research Program, National Institutes of Health RCV000237941 SCV005427604 uncertain significance Hypercholesterolemia, familial, 1 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 473 of the LDLR protein. This variant is also known as p.Ile452Val in the mature protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. A functional study using transfected CHO-ldlA7 cells has shown that this variant does not affect LDL binding and uptake (PMID: 34167030). This variant has been reported in one individual affected with familial hypercholesterolemia (PMID: 26020417, 34167030). This variant was also present in one additional affected relative and in one unaffected relative in one family (PMID: 26020417, 34167030). 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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