ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)

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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 RCV003052894 SCV003446678 uncertain significance Fanconi anemia 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1512 of the SLX4 protein (p.Asp1512Asn). This variant is present in population databases (no rsID available, gnomAD 0.009%). This missense change has been observed in individual(s) with head and neck cancer (PMID: 28678401). 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: "Deleterious"; PolyPhen-2: "Possibly 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.

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