ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)

dbSNP: rs868246375
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539853 SCV000289426 uncertain significance not provided 2025-02-02 criteria provided, single submitter clinical testing This variant, c.5528_5530del, results in the deletion of 1 amino acid(s) of the POLE protein (p.Asn1843del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 240562). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Counsyl RCV000226113 SCV000785929 uncertain significance Colorectal cancer, susceptibility to, 12 2018-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024227 SCV001186209 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-25 criteria provided, single submitter clinical testing The c.5528_5530delACA variant (also known as p.N1843del) is located in coding exon 40 of the POLE gene. This variant results from an in-frame ACA deletion at nucleotide positions 5528 to 5530. This results in the in-frame deletion of an asparagine at codon 1843. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002503913 SCV002814759 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2022-04-20 criteria provided, single submitter clinical testing
GeneDx RCV003539853 SCV005326060 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29056344)

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