ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)

dbSNP: rs2040788600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065245 SCV001230195 pathogenic Fanconi anemia 2019-03-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln187*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product.
AiLife Diagnostics, AiLife Diagnostics RCV002223984 SCV002502254 likely pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing

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