ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) (rs879254462)

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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 RCV000238470 SCV000294595 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001057279 SCV001221763 uncertain significance Familial hypercholesterolemia 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 102 of the LDLR protein (p.Gln102Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 16250003, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 251127). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238470 SCV000606072 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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