ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn)

dbSNP: rs1375119564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214305 SCV002497230 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337408 SCV002644114 uncertain significance Inborn genetic diseases 2022-06-02 criteria provided, single submitter clinical testing The p.S1693N variant (also known as c.5078G>A), located in coding exon 29 of the ATR gene, results from a G to A substitution at nucleotide position 5078. The serine at codon 1693 is replaced by asparagine, an amino acid with highly 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.
Genome-Nilou Lab RCV003126201 SCV003801488 uncertain significance Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126202 SCV003801489 uncertain significance Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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