ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)

dbSNP: rs1266198754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791729 SCV000930990 pathogenic Fanconi anemia 2018-08-04 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 disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro627Argfs*51) in the SLX4 gene. It is expected to result in an absent or disrupted protein product.

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