ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala)

gnomAD frequency: 0.00003  dbSNP: rs201492267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488084 SCV000575376 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764471 SCV000895538 uncertain significance Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000488084 SCV001217035 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1616 of the ATR protein (p.Ser1616Ala). This variant is present in population databases (rs201492267, gnomAD 0.05%). 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: 425314). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV003126750 SCV003801509 uncertain significance Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126751 SCV003801510 uncertain significance Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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