ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.592del (p.Tyr198fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309430 SCV002603806 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2022-03-31 criteria provided, single submitter clinical testing NM_015166.3(MLC1):c.592delT(Y198Tfs*6) is expected to be pathogenic in the context of megalencephalic leukoencephalopathy with subcortical cysts. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MLC1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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