ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)

dbSNP: rs749277750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820283 SCV002064669 uncertain significance not specified 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869711 SCV002284546 uncertain significance Fanconi anemia 2023-09-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1337269). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 600 of the SLX4 protein (p.Pro600Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLX4-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002478057 SCV002784351 uncertain significance Fanconi anemia complementation group P 2022-05-06 criteria provided, single submitter clinical testing

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