ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)

gnomAD frequency: 0.00004  dbSNP: rs551823420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471989 SCV000547445 uncertain significance Fanconi anemia 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 424 of the SLX4 protein (p.Ala424Val). This variant is present in population databases (rs551823420, gnomAD 0.2%). This missense change has been observed in individual(s) with breast cancer (PMID: 22911665). ClinVar contains an entry for this variant (Variation ID: 407905). 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 RCV000764065 SCV000895019 uncertain significance Fanconi anemia complementation group P 2018-10-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194847 SCV001364676 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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