ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu)

gnomAD frequency: 0.00001  dbSNP: rs769688259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457286 SCV000547446 uncertain significance Fanconi anemia 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1157 of the SLX4 protein (p.Ser1157Leu). This variant is present in population databases (rs769688259, gnomAD 0.006%). 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: 407906). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004696221 SCV005194165 uncertain significance not provided criteria provided, single submitter not provided

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