ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)

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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 RCV002612654 SCV003513300 uncertain significance Fanconi anemia 2022-10-21 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 825 of the SLX4 protein (p.Asp825Tyr). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV002637432 SCV003632260 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.2473G>T (p.D825Y) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to T substitution at nucleotide position 2473, causing the aspartic acid (D) at amino acid position 825 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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