ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) (rs149470704)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548798 SCV000626395 uncertain significance Fanconi anemia 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 359 of the SLX4 protein (p.Lys359Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs149470704, ExAC 0.02%). This variant has been reported in the literature in an individual with breast cancer (PMID: 23840564). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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