ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile)

dbSNP: rs199573277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630925 SCV000751899 uncertain significance Fanconi anemia 2023-07-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs199573277, gnomAD 0.04%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1628 of the SLX4 protein (p.Thr1628Ile). ClinVar contains an entry for this variant (Variation ID: 526400). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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