ClinVar Miner

Submissions for variant NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)

dbSNP: rs199788797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lifecell International Pvt. Ltd RCV001270294 SCV003914817 likely pathogenic Amelogenesis imperfecta hypomaturation type 2A2 criteria provided, single submitter clinical testing A Heterozygous Missense variant c.625G>C in Exon 4 of the MMP20 gene that results in the amino acid substitution p.Glu209Gln was identified. The observed variant has a maximum allele frequency of 0.00006/% in gnomAD exomes and novel in genomes, respectively. 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. ClinVar has also classified this variant as Pathogenic (Variant ID: 917990). Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines.
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV001270294 SCV001338799 pathogenic Amelogenesis imperfecta hypomaturation type 2A2 2020-06-11 no assertion criteria provided research

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