ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.611T>C (p.Leu204Pro)

dbSNP: rs2102491191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775336 SCV002012140 likely pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-10-02 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed in trans with a pathogenic variant (NM_144772.2: c.229del) as compound heterozygous (3billion dataset, PM3). The variant has been reported to co-segregate with the disease in at least one similarly affected relative/individual in the same family (3billion dataset, PP1). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.802, PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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