ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) (rs145137472)

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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 RCV000762181 SCV000892449 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362095 SCV000396859 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000362095 SCV000626412 uncertain significance Fanconi anemia 2018-02-26 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 894 of the SLX4 protein (p.Val894Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs145137472, ExAC 0.04%). This variant has not been reported in the literature in individuals with SLX4-related disease. ClinVar contains an entry for this variant (Variation ID: 319164). 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 glycine 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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