ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.118G>A (p.Asp40Asn)

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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 RCV003696462 SCV004454819 uncertain significance not provided 2024-07-16 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 40 of the ANXA11 protein (p.Asp40Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANXA11-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the p.Asp40 amino acid residue in ANXA11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28469040, 29845112, 33087501, 33218681, 33618928, 34048612). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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