ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)

dbSNP: rs1374549534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239888 SCV001412791 pathogenic Fanconi anemia 2019-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1386*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLX4-related conditions. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). For these reasons, this variant has been classified as Pathogenic.

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