ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) (rs782708557)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622873 SCV000741037 uncertain significance Inborn genetic diseases 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716974 SCV000847819 uncertain significance History of neurodevelopmental disorder 2016-10-07 criteria provided, single submitter clinical testing The p.K1305Q variant (also known as c.3913A>C), located in coding exon 11 of the ATRX gene, results from an A to C substitution at nucleotide position 3913. The lysine at codon 1305 is replaced by glutamine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6499 samples with coverage at this position. This amino acid position is highly 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 RCV000863037 SCV001003629 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-02 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001449593 SCV001652768 uncertain significance X-linked intellectual disability-hypotonic face syndrome 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000863037 SCV001453022 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-06-03 no assertion criteria provided clinical testing

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