ClinVar Miner

Submissions for variant NM_001161.5(NUDT2):c.407AAG[1] (p.Glu137del)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003236621 SCV005442375 uncertain significance Intellectual developmental disorder with or without peripheral neuropathy 2024-12-31 criteria provided, single submitter clinical testing A homozygous three base pair deletion (c.410_412del) in exon 5 of the NUDT2 gene that results in deletion of amino acid glutamic acid at codon 137 was detected (p.Glu137del). This variant has not been reported in the 1000 genomes and has a MAF of 0.0004% in the gnomAD database. The in-silico prediction of the variant is damaging MutationTaster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Houlden Lab, UCL Institute of Neurology RCV003236621 SCV003935026 uncertain significance Intellectual developmental disorder with or without peripheral neuropathy no assertion criteria provided research
OMIM RCV003236621 SCV005909293 pathogenic Intellectual developmental disorder with or without peripheral neuropathy 2025-04-16 no assertion criteria provided literature only

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