ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.536dup (p.Tyr180fs)

dbSNP: rs1677397982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808873 SCV002059081 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported to be associated with NAXE related disorder (3billion dataset).It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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