ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.3311G>A (p.Gly1104Glu)

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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 RCV004936809 SCV005619019 uncertain significance not specified 2024-07-14 criteria provided, single submitter clinical testing The c.3311G>A (p.G1104E) alteration is located in exon 19 (coding exon 19) of the MAGI2 gene. This alteration results from a G to A substitution at nucleotide position 3311, causing the glycine (G) at amino acid position 1104 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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