ClinVar Miner

Submissions for variant NM_012154.5(AGO2):c.2512G>C (p.Asp838His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004392096 SCV004872255 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.2512G>C (p.D838H) alteration is located in exon 19 (coding exon 19) of the AGO2 gene. This alteration results from a G to C substitution at nucleotide position 2512, causing the aspartic acid (D) at amino acid position 838 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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