ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) (rs587783338)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145328 SCV000192406 uncertain significance Seckel syndrome 1 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV001246807 SCV001420192 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 2321 of the ATR protein (p.Phe2321Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs587783338, ExAC 0.2%). This variant has been observed in individual(s) with personal or family history of breast and/or ovarian cancer (PMID: 30262796). ClinVar contains an entry for this variant (Variation ID: 158001). 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 leucine 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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