ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) (rs201492267)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik 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; Cutaneous telangiectasia and cancer syndrome, familial 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000488084 SCV001217035 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 1616 of the ATR protein (p.Ser1616Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (rs201492267, ExAC 0.01%). This variant has not been reported in the literature in individuals with ATR-related disease. 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, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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