ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)

dbSNP: rs772562892
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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 RCV001946096 SCV002214796 uncertain significance Fanconi anemia 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 517 of the SLX4 protein (p.Gly517Asp). 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 variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1433594). 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. 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 RCV002479494 SCV002778585 uncertain significance Fanconi anemia complementation group P 2022-02-05 criteria provided, single submitter clinical testing

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