ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del)

dbSNP: rs879254953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238102 SCV000295531 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV003581629 SCV004298365 uncertain significance Familial hypercholesterolemia 2023-10-04 criteria provided, single submitter clinical testing This variant, c.1600_1608del, results in the deletion of 3 amino acid(s) of the LDLR protein (p.Thr534_Trp536del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal dominant familial hypercholesterolemia (PMID: 10422802). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Thr513_Trp515del. ClinVar contains an entry for this variant (Variation ID: 251928). 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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