ClinVar Miner

Submissions for variant NM_006521.6(TFE3):c.569A>G (p.His190Arg)

dbSNP: rs2147776445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775204 SCV002011869 likely pathogenic Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 2021-10-25 criteria provided, single submitter clinical testing This variant is not observed in the gnomAD v2.1.1 dataset ( PM2). It is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). A different missense change at the same codon has been reported as pathogenic (PMID: 32409512, PM5). n silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.625, PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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