ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)

gnomAD frequency: 0.00004  dbSNP: rs760435859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470116 SCV000547439 uncertain significance Fanconi anemia 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1802 of the SLX4 protein (p.Asp1802Asn). This variant is present in population databases (rs760435859, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 407900). 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 C15"). 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 RCV002481426 SCV002779608 uncertain significance Fanconi anemia complementation group P 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409623 SCV004113085 uncertain significance SLX4-related condition 2023-08-23 criteria provided, single submitter clinical testing The SLX4 c.5404G>A variant is predicted to result in the amino acid substitution p.Asp1802Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3632444-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003418175 SCV004144887 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing SLX4: PP2

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