ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val) (rs782396522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719485 SCV000850352 uncertain significance History of neurodevelopmental disorder 2016-12-19 criteria provided, single submitter clinical testing The p.L2214V variant (also known as c.6640T>G), located in coding exon 30 of the ATRX gene, results from a T to G substitution at nucleotide position 6640. The leucine at codon 2214 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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 variant remains unclear.
Invitae RCV000870602 SCV001012117 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Invitae RCV001397900 SCV001599662 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-10-14 criteria provided, single submitter clinical testing

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