Submissions for variant NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu)

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Minimum conflict level: Report conflict between different conditions
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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	RCV000456216	SCV000547463	uncertain significance	Fanconi anemia	2022-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1434 of the SLX4 protein (p.Ser1434Leu). This variant is present in population databases (rs776332160, gnomAD 0.006%). This missense change has been observed in individual(s) with bone marrow failure (PMID: 30995915). ClinVar contains an entry for this variant (Variation ID: 407923). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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	RCV002481428	SCV002789177	uncertain significance	Fanconi anemia complementation group P	2024-03-28	criteria provided, single submitter	clinical testing

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