ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.1752+1G>A

gnomAD frequency: 0.00002  dbSNP: rs866641122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577246 SCV005061177 likely pathogenic Obesity due to congenital leptin deficiency criteria provided, single submitter clinical testing The splice donor c.1752+1G>A variant in the LEPR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.001%) in the gnomAD Exomes. The variant affects the GT donor splice site downstream of exon 12. Loss of function variants have been previously reported to be disease causing.The spliceAI tool predicts the variant to be Benign. For these reasons, this variant has been classified as Likely Pathogenic.

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