ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.941A>G (p.His314Arg)

gnomAD frequency: 0.00001  dbSNP: rs1274906202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237448 SCV002009200 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540727 SCV003523763 uncertain significance Fanconi anemia 2022-03-11 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"). ClinVar contains an entry for this variant (Variation ID: 1319440). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 314 of the SLX4 protein (p.His314Arg).
Ambry Genetics RCV003298993 SCV003989745 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.941A>G (p.H314R) alteration is located in exon 4 (coding exon 3) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 941, causing the histidine (H) at amino acid position 314 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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