ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)

dbSNP: rs141450907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001988525 SCV002273865 uncertain significance Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing 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 aspartic acid 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. This sequence change replaces glutamic acid with aspartic acid at codon 907 of the SLX4 protein (p.Glu907Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002486548 SCV002783491 uncertain significance Fanconi anemia complementation group P 2022-04-05 criteria provided, single submitter clinical testing

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