ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) (rs149126845)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088147 SCV000547477 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000519850 SCV000620201 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing The K458E variant in the SLX4 gene has been reported previously in an individual with seizures and developmental delay who had exome sequencing and found to have a de novo variant in the SLC1A2 gene and compound heterozygous for the K458E variant and another missense variant in the SLX4 gene; however follow up testing for Fanconi anemia was normal (Guella et al., 2017). In addition, K458E has been reported in an individual diagnosed with breast cancer (Bakker et al., 2013). The K458E variant is observed in 19/11562 (0.16%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The K458E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K458E as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764064 SCV000895018 uncertain significance Fanconi anemia, complementation group P 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000989503 SCV001139916 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000519850 SCV001150772 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000764064 SCV001280599 uncertain significance Fanconi anemia, complementation group P 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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