ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)

gnomAD frequency: 0.00004  dbSNP: rs752941190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232703 SCV001405270 uncertain significance Fanconi anemia 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1208 of the SLX4 protein (p.Pro1208Ala). This variant is present in population databases (rs752941190, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 959364). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001776158 SCV002013455 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32546565)
Fulgent Genetics, Fulgent Genetics RCV002491749 SCV002788291 uncertain significance Fanconi anemia complementation group P 2021-10-05 criteria provided, single submitter clinical testing

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