ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4672C>G (p.His1558Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003886805 SCV004704114 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing ATR: PM2
Ambry Genetics RCV004369708 SCV005016921 uncertain significance Inborn genetic diseases 2021-08-05 criteria provided, single submitter clinical testing The p.H1558D variant (also known as c.4672C>G), located in coding exon 27 of the ATR gene, results from a C to G substitution at nucleotide position 4672. The histidine at codon 1558 is replaced by aspartic acid, an amino acid with similar 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.

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