ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro)

dbSNP: rs1400414235
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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 RCV001206305 SCV001377607 uncertain significance Fanconi anemia 2022-03-07 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline 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: 937322). This missense change has been observed in individual(s) with aplastic anemia (PMID: 24763404). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1142 of the SLX4 protein (p.Ser1142Pro).

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