ClinVar Miner

Submissions for variant NM_001195798.2(LDLR):c.168_170TGA[1] (p.Asp57del) (rs879254421)

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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 RCV000237267 SCV000294492 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237267 SCV000484811 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Invitae RCV000237267 SCV000826713 uncertain significance Familial hypercholesterolemia 1 2018-05-10 criteria provided, single submitter clinical testing This variant, c.171_173delTGA, results in the deletion of 1 amino acid(s) of the LDLR protein (p.Asp57del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with familial hypercholesterolemia (PMID: 11668627, 16389549). This variant is also known as D36del in the literature. It has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 251041). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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