ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro)

dbSNP: rs766089444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523500 SCV000620890 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing The Q1717P variant in the SLX4 gene has been reported previously as a heterozygous variant in an individual with breast cancer and a family history of breast cancer (Shah et al., 20113). The Q1717P variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The Q1717P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q1717P as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001236383 SCV001409106 uncertain significance Fanconi anemia 2020-04-09 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 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"). This variant has been observed in an individual affected with breast cancer (PMID: 23840564). ClinVar contains an entry for this variant (Variation ID: 452113). This variant is present in population databases (rs766089444, ExAC 0.003%). This sequence change replaces glutamine with proline at codon 1717 of the SLX4 protein (p.Gln1717Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline.

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