ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)

dbSNP: rs777790290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lifecell International Pvt. Ltd RCV003227569 SCV003924047 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 criteria provided, single submitter clinical testing A Homozygote Missense variant c.798C>G in Exon 10 of the MLC1 gene that results in the amino acid substitution p.Ser266Arg was identified. The observed variant is novel in gnomAD exomes and genomes. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. This variant has been previously reported in Aparna G et al., 2019. Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines.

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