ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.74G>A (p.Gly25Asp)

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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 RCV002976590 SCV003291346 uncertain significance not provided 2023-11-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 25 of the ANXA11 protein (p.Gly25Asp). This variant is present in population databases (rs770526320, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ANXA11-related conditions. ClinVar contains an entry for this variant (Variation ID: 2077611). 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.
Ambry Genetics RCV003170792 SCV003868198 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.74G>A (p.G25D) alteration is located in exon 3 (coding exon 2) of the ANXA11 gene. This alteration results from a G to A substitution at nucleotide position 74, causing the glycine (G) at amino acid position 25 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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