ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)

dbSNP: rs879254408
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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 RCV000237937 SCV000294468 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001036722 SCV001200099 pathogenic Familial hypercholesterolemia 2019-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln35*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 9974426). This variant is also known as Q14X and FH-Milano-3 in the literature. ClinVar contains an entry for this variant (Variation ID: 251021). This variant is not present in population databases (ExAC no frequency).
New York Genome Center RCV000237937 SCV002764561 pathogenic Hypercholesterolemia, familial, 1 2021-01-21 criteria provided, single submitter clinical testing The c.103C>T, p.Gln35Ter variant identified in the LDLR gene is a nonsense change creates a premature translational stop signal at exon 2/18,and will produce a truncated protein through nonsense mediated mRNA decay. This variant has also been historically called as Q14X or FH-Milano 3, [PMID:9974426]. This variant is absent in gnomADv3.1 suggesting it is not a common benign variant in the populations represented in that database. Based on available evidence the c.103C>T, p.Gln35Terv ariant identified in the LDLR gene is reported as Pathogenic.

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