ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.739G>A (p.Gly247Ser)

gnomAD frequency: 0.00001  dbSNP: rs147883184
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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 RCV002028452 SCV002284330 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANXA11-related conditions. This variant is present in population databases (rs147883184, ExAC 0.002%). This sequence change replaces glycine with serine at codon 247 of the ANXA11 protein (p.Gly247Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
Ambry Genetics RCV005375002 SCV006040024 uncertain significance Inborn genetic diseases 2025-02-08 criteria provided, single submitter clinical testing The c.739G>A (p.G247S) alteration is located in exon 6 (coding exon 5) of the ANXA11 gene. This alteration results from a G to A substitution at nucleotide position 739, causing the glycine (G) at amino acid position 247 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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