ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)

gnomAD frequency: 0.00001  dbSNP: rs763130593
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305622 SCV001494961 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1768 of the ATR protein (p.Asp1768Gly). This variant is present in population databases (rs763130593, gnomAD 0.009%). 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: 1008314). 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.
Fulgent Genetics, Fulgent Genetics RCV002486189 SCV002802095 uncertain significance Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2022-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127784 SCV003801462 uncertain significance Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127785 SCV003801463 uncertain significance Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166735 SCV003910963 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.5303A>G (p.D1768G) alteration is located in exon 31 (coding exon 31) of the ATR gene. This alteration results from a A to G substitution at nucleotide position 5303, causing the aspartic acid (D) at amino acid position 1768 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001305622 SCV004148493 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing ATR: PM2, BP4

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