ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn)

gnomAD frequency: 0.00001  dbSNP: rs1340467468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236300 SCV001409017 uncertain significance Fanconi anemia 2022-10-13 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. 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: 962446). This missense change has been observed in individual(s) with breast cancer (PMID: 28202063). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 640 of the SLX4 protein (p.Thr640Asn).

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