ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.489dup (p.Ala164fs)

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Total submissions: 1
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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 RCV003229535 SCV003926505 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2023-05-25 criteria provided, single submitter clinical testing A heterozygous single base pair insertion in exon 6 of the MLC1 gene that results in a frameshift and premature truncation of the protein 17 amino acids downstream to codon 164 (p.Ala164CysfsTer17) was detected. The variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1), and topmed database respectively. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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