ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala)

gnomAD frequency: 0.00002  dbSNP: rs759305861
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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 RCV002022585 SCV002287869 uncertain significance Fanconi anemia 2023-03-17 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1502940). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs759305861, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1624 of the SLX4 protein (p.Pro1624Ala).

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