ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)

gnomAD frequency: 0.00001  dbSNP: rs1052888437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293950 SCV001482653 uncertain significance Fanconi anemia complementation group P 2018-12-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. The c.421G>T (p.G141W) variant has been previously reported in patients with breast cancer [PMID 23211700, 23840564]
Labcorp Genetics (formerly Invitae), Labcorp RCV001863177 SCV002315911 uncertain significance Fanconi anemia 2021-08-24 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 998224). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 380 of the SLX4 protein (p.Gly380Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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