ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1851del (p.Val618fs)

dbSNP: rs1568610747
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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 RCV002233696 SCV000835770 pathogenic Familial hypercholesterolemia 2020-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 23430853). This variant is also known as  c.1849delA (p.Val597Tyrfs45X) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val618Tyrfs*47) in the LDLR gene. It is expected to result in an absent or disrupted protein product.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800859 SCV002046536 pathogenic not provided 2020-12-30 criteria provided, single submitter clinical testing This frameshift variant causes the premature termination of LDLR protein synthesis. It has been reported in a child affected with homozygous familial hypercholesteremia in the published literature (PMID: 23430853 (2011)). Therefore, the variant is classified as pathogenic.

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