ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala)

gnomAD frequency: 0.00001  dbSNP: rs1480904013
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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 RCV001203752 SCV001374928 uncertain significance Fanconi anemia 2023-05-05 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 935208). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1608 of the SLX4 protein (p.Ser1608Ala).
Fulgent Genetics, Fulgent Genetics RCV002504233 SCV002817098 uncertain significance Fanconi anemia complementation group P 2021-10-18 criteria provided, single submitter clinical testing

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