ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)

dbSNP: rs1586657848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266425 SCV001444599 likely pathogenic Inborn genetic diseases 2021-05-03 criteria provided, single submitter clinical testing The c.1514G>A (p.R505Q) alteration is located in exon 8 (coding exon 7) of the SMARCA2 gene. This alteration results from a G to A substitution at nucleotide position 1514, causing the arginine (R) at amino acid position 505 to be replaced by a glutamine (Q). Based on data from the Genome Aggregation Database (gnomAD), the SMARCA2 c.1514G>A alteration was not observed, with coverage at this position. The p.R505Q alteration was previously reported de novo in a patient with a neurodevelopmental disorder that included moderate developmental delay and intellectual disability, blepharophimosis, skeletal anomalies, and dysmorphic features but lacking the common facial gestalt of Nicolaides-Baraister syndrome (Cappuccio, 2020). Additionally, this alteration was reported once as de novo in a female patient in a cohort of individuals with developmental disorders (DDD, 2015). The p.R505 amino acid is conserved in available vertebrate species. The p.R505Q alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.
GeneDx RCV001559851 SCV001782162 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191890, 31036916, 25533962, 31785789, 32694869)
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV001029747 SCV001169152 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375918 SCV001572898 pathogenic Blepharophimosis-impaired intellectual development syndrome 2021-04-30 no assertion criteria provided literature only

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