ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.67+1G>T

dbSNP: rs762417023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000509520 SCV000607409 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
All of Us Research Program, National Institutes of Health RCV000509520 SCV004840239 likely pathogenic Hypercholesterolemia, familial, 1 2023-11-20 criteria provided, single submitter clinical testing This variant causes a G to T nucleotide substitution at the canonical +1 position of intron 1 of the LDLR gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. This variant has been reported in at least one individual affected with familial hypercholesterolemia (PMID: 28964736). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different variants affecting the same splice donor site, c.67+1G>A, c.67+1dup, and c.67+2T>A, are reported to be disease-causing (ClinVar variation ID: 431507, 1067553, 250987). Loss of LDLR function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

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