ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.248G>C (p.Gly83Ala) (rs771698977)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630960 SCV000751936 uncertain significance Fanconi anemia 2017-11-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 83 of the SLX4 protein (p.Gly83Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs771698977, ExAC 0.006%). This variant has been reported in an individual affected with breast cancer (PMID: 22401137). 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 and their clinical significance is uncertain. 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.

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