ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) (rs879255064)

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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 RCV000238461 SCV000295732 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color Health, Inc RCV000775079 SCV000909182 uncertain significance Familial hypercholesterolemia 2018-10-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Asn604Thr in the mature protein) is located in the sixth LDLR-B (YWTD) repeat domain of the LDLR protein. Computational prediction tools and conservation analyses are inconsistent regarding this variant. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. The variant has been reported in one German individual affected with FH (PMID 11462246). This variant is rare in the general population (0/277264 chromosomes in the Genome Aggregation Database, gnomAD). Based on available information, this variant is classified as Variant of Uncertain Significance.

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