ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)

gnomAD frequency: 0.00002  dbSNP: rs571996250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001261855 SCV001439197 uncertain significance Fanconi anemia 2020-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001261855 SCV001536264 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 301 of the SLX4 protein (p.Lys301Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs571996250, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. 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"). 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 RCV002486007 SCV002788300 uncertain significance Fanconi anemia complementation group P 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671307 SCV005167131 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.901A>C (p.K301Q) alteration is located in exon 4 (coding exon 3) of the SLX4 gene. This alteration results from a A to C substitution at nucleotide position 901, causing the lysine (K) at amino acid position 301 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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