ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.842T>A (p.Val281Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002445908 SCV002678370 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The p.V281E variant (also known as c.842T>A), located in coding exon 4 of the ATR gene, results from a T to A substitution at nucleotide position 842. The valine at codon 281 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
CeGaT Center for Human Genetics Tuebingen RCV003992637 SCV004810640 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing ATR: PM2, BP4

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