ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.514del (p.Leu172fs)

dbSNP: rs1567178071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000024018 SCV002803463 pathogenic Fanconi anemia complementation group P 2022-04-06 criteria provided, single submitter clinical testing
Invitae RCV002513216 SCV003308943 pathogenic Fanconi anemia 2022-03-06 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: 31025). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 21240275). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu172Phefs*22) 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 RCV000024018 SCV000045309 pathogenic Fanconi anemia complementation group P 2011-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000024018 SCV001364638 pathogenic Fanconi anemia complementation group P 2011-02-10 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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