ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.139A>G (p.Ile47Val)

gnomAD frequency: 0.00001  dbSNP: rs782584831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255204 SCV002526537 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002391382 SCV002700737 uncertain significance Inborn genetic diseases 2020-09-18 criteria provided, single submitter clinical testing The p.I47V variant (also known as c.139A>G), located in coding exon 3 of the ATRX gene, results from an A to G substitution at nucleotide position 139. The isoleucine at codon 47 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. Based on data from gnomAD, the G allele has an overall frequency of 0.0025% (2/81609) total alleles studied with no hemizygotes. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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