ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.6431A>G (p.Gln2144Arg)

dbSNP: rs387906797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556071 SCV004293522 uncertain significance not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2144 of the ATR protein (p.Gln2144Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant oropharyngeal cancer and/or autosomal dominant oropharyngeal cancer syndrome (PMID: 22341969). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30165). 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 disruptive. 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.
OMIM RCV000023082 SCV000044373 pathogenic Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2012-03-09 no assertion criteria provided literature only

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