ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.10C>T (p.His4Tyr)

gnomAD frequency: 0.00001  dbSNP: rs373534503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001265 SCV002269924 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 4 of the ATR protein (p.His4Tyr). This variant is present in population databases (rs373534503, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1486140). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002425381 SCV002742828 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The p.H4Y variant (also known as c.10C>T), located in coding exon 1 of the ATR gene, results from a C to T substitution at nucleotide position 10. The histidine at codon 4 is replaced by tyrosine, 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.
Genome-Nilou Lab RCV003126071 SCV003802007 uncertain significance Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126072 SCV003802008 uncertain significance Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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