ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.626C>A (p.Ala209Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283818 SCV002572930 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.84; 3Cnet: 0.64). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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