Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lifecell International Pvt. |
RCV000157641 | SCV003924052 | likely pathogenic | Amelogenesis imperfecta type 1H | criteria provided, single submitter | clinical testing | A Heterozygous Missense variant c.586C>A in Exon 4 of the ITGB6 gene that results in the amino acid substitution p.Pro196Thr was identified. The observed variant has a minor allele frequency of 0.00008% in gnomAD exomes, 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 180686). This variant has been previously reported in Poulter J A et al., 2014. Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines. | |
OMIM | RCV000157641 | SCV000207597 | pathogenic | Amelogenesis imperfecta type 1H | 2014-04-15 | no assertion criteria provided | literature only |