ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5480del (p.Gly1827fs)

dbSNP: rs780024167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696605 SCV000825171 uncertain significance Fanconi anemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1827Alafs*56) in the SLX4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the SLX4 protein. This variant is present in population databases (rs780024167, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002477586 SCV002784388 uncertain significance Fanconi anemia complementation group P 2022-05-19 criteria provided, single submitter clinical testing

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