ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)

gnomAD frequency: 0.00007  dbSNP: rs199656607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058633 SCV001223218 uncertain significance Fanconi anemia 2023-08-04 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 853759). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 828 of the SLX4 protein (p.Glu828Asp). This variant is present in population databases (rs199656607, gnomAD 0.1%). This missense change has been observed in individual(s) with breast cancer and unaffected controls (PMID: 25288723).
Illumina Laboratory Services, Illumina RCV001121830 SCV001280483 uncertain significance Fanconi anemia complementation group P 2017-04-27 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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