ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)

dbSNP: rs200533979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237445 SCV000295211 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237445 SCV000322932 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles
Labcorp Genetics (formerly Invitae), Labcorp RCV001318147 SCV001508838 uncertain significance Familial hypercholesterolemia 2020-08-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 26020417). ClinVar contains an entry for this variant (Variation ID: 251656). This sequence change replaces threonine with asparagine at codon 363 of the LDLR protein (p.Thr363Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000237445 SCV001653489 likely pathogenic Hypercholesterolemia, familial, 1 2021-05-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000237445 SCV004827019 uncertain significance Hypercholesterolemia, familial, 1 2023-04-27 criteria provided, single submitter clinical testing

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