ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg)

gnomAD frequency: 0.00001  dbSNP: rs1346015743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011608 SCV002300520 uncertain significance Fanconi anemia 2023-02-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1510229). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1627 of the SLX4 protein (p.Gln1627Arg).

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