ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1093del (p.Gln365fs)

dbSNP: rs1218169126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003522921 SCV004319087 pathogenic Fanconi anemia 2023-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 31022). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 21240277). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln365Serfs*32) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277).
OMIM RCV000024015 SCV000045306 pathogenic Fanconi anemia complementation group P 2011-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000024015 SCV001364650 pathogenic Fanconi anemia complementation group P 2011-02-22 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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