ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.437G>A (p.Gly146Glu)

dbSNP: rs2492155132
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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 RCV003722409 SCV004511701 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 146 of the ANXA11 protein (p.Gly146Glu). 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. 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 RCV004654312 SCV005143760 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.437G>A (p.G146E) alteration is located in exon 4 (coding exon 3) of the ANXA11 gene. This alteration results from a G to A substitution at nucleotide position 437, causing the glycine (G) at amino acid position 146 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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