ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)

dbSNP: rs1586660381
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001029748 SCV001437909 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
3billion RCV001375919 SCV002318571 pathogenic Blepharophimosis-impaired intellectual development syndrome 2022-03-22 criteria provided, single submitter clinical testing Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000829814, PMID:28628100). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000829811, PMID:28628100). The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.752>=0.6). A missense variant is a common mechanism . It is not observed in the gnomAD v2.1.1 dataset. TTherefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV002462259 SCV002757316 pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28628100, 28191890, 25533962, 32694869, 28135719)
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV001029748 SCV001169154 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375919 SCV001572899 pathogenic Blepharophimosis-impaired intellectual development syndrome 2021-04-30 no assertion criteria provided literature only

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