ClinVar Miner

Submissions for variant NM_001134366.2(GAD2):c.1124G>T (p.Arg375Leu)

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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 RCV004922122 SCV005592206 uncertain significance not specified 2024-09-03 criteria provided, single submitter clinical testing The c.1124G>T (p.R375L) alteration is located in exon 11 (coding exon 11) of the GAD2 gene. This alteration results from a G to T substitution at nucleotide position 1124, causing the arginine (R) at amino acid position 375 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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