ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.572A>C (p.Gln191Pro)

gnomAD frequency: 0.00001  dbSNP: rs1423948022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038313 SCV002316052 uncertain significance Familial hypercholesterolemia 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 191 of the LDLR protein (p.Gln191Pro). 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 missense change has been observed in individual(s) with clinical features of familial hypercholesterolemia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
All of Us Research Program, National Institutes of Health RCV004011161 SCV004839554 uncertain significance Hypercholesterolemia, familial, 1 2023-12-01 criteria provided, single submitter clinical testing

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