ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)

gnomAD frequency: 0.00006  dbSNP: rs376906761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553088 SCV001773894 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing 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 RCV002449365 SCV002734361 uncertain significance Inborn genetic diseases 2016-10-05 criteria provided, single submitter clinical testing The p.A771V variant (also known as c.2312C>T), located in coding exon 9 of the ATRX gene, results from a C to T substitution at nucleotide position 2312. The alanine at codon 771 is replaced by valine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs376906761. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/10554). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since clinical data for this variant is limited at this time, its clinical significance is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001827461 SCV003462626 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827461 SCV002087337 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-06-08 no assertion criteria provided clinical testing

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