ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)

gnomAD frequency: 0.00005  dbSNP: rs762619200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292706 SCV001481327 uncertain significance Fanconi anemia complementation group P 2019-08-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001292706 SCV002776077 uncertain significance Fanconi anemia complementation group P 2021-12-14 criteria provided, single submitter clinical testing
Invitae RCV002541815 SCV003519885 uncertain significance Fanconi anemia 2023-08-16 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: 997508). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1795 of the SLX4 protein (p.Arg1795Cys).

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