ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.646-2_649del

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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 RCV003338175 SCV004047164 likely pathogenic Amelocerebrohypohidrotic syndrome criteria provided, single submitter clinical testing The splice site c.646-2_649del variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge.. The c.646-2_649del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes.The variant affects an invariant splice nucleotide and hence is expected to cause loss of function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely pathogenic.

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