ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr)

gnomAD frequency: 0.00001  dbSNP: rs1047410438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691340 SCV000819116 uncertain significance Hypercholesterolemia, familial, 4 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 281 of the LDLRAP1 protein (p.Met281Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV000691340 SCV002788467 uncertain significance Hypercholesterolemia, familial, 4 2021-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000691340 SCV004172987 uncertain significance Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825345 SCV002085945 uncertain significance Familial hypercholesterolemia 2019-11-11 no assertion criteria provided clinical testing

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