ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)

dbSNP: rs1264184614
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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 RCV001336768 SCV001530243 uncertain significance Fanconi anemia complementation group P 2018-09-18 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 RCV002546793 SCV003500621 uncertain significance Fanconi anemia 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 118 of the SLX4 protein (p.Pro118Ala). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1034143). This variant has not been reported in the literature in individuals affected with SLX4-related conditions.

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