ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)

dbSNP: rs730880298
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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 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

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