ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)

gnomAD frequency: 0.00007  dbSNP: rs370663234
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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 RCV001788962 SCV002030191 uncertain significance Fanconi anemia complementation group P 2021-11-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003635973 SCV004412451 uncertain significance Fanconi anemia 2023-09-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1327082). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs370663234, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1259 of the SLX4 protein (p.Ala1259Thr).

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