ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)

dbSNP: rs281875197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262574 SCV001440496 pathogenic Nicolaides-Baraitser syndrome 2020-09-02 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Baylor Genetics RCV003147603 SCV003835134 pathogenic Blepharophimosis-impaired intellectual development syndrome 2021-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001262574 SCV003835143 pathogenic Nicolaides-Baraitser syndrome 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035396 SCV005019744 uncertain significance Inborn genetic diseases 2019-07-16 criteria provided, single submitter clinical testing The p.R1105H variant (also known as c.3314G>A), located in coding exon 23 of the SMARCA2 gene, results from a G to A substitution at nucleotide position 3314. The arginine at codon 1105 is replaced by histidine, an amino acid with highly similar properties. This variant has been identified as de novo in an individual with SMARCA2-consistent phentoype (Santen GW et al. Hum. Mutat., 2013 Nov;34:1519-28). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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