ClinVar Miner

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

dbSNP: rs771698977
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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 RCV000630960 SCV000751936 uncertain significance Fanconi anemia 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 83 of the SLX4 protein (p.Gly83Ala). This variant is present in population databases (rs771698977, gnomAD 0.005%). This missense change has been observed in individual(s) with breast cancer and/or pituitary stalk interruption syndrome (PMID: 22401137, 33270637). ClinVar contains an entry for this variant (Variation ID: 526432). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002492950 SCV002789064 uncertain significance Fanconi anemia complementation group P 2022-04-29 criteria provided, single submitter clinical testing

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