ClinVar Miner

Submissions for variant NM_001134366.2(GAD2):c.1088T>C (p.Val363Ala)

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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 RCV004922123 SCV005592207 uncertain significance not specified 2024-10-08 criteria provided, single submitter clinical testing The c.1088T>C (p.V363A) alteration is located in exon 10 (coding exon 10) of the GAD2 gene. This alteration results from a T to C substitution at nucleotide position 1088, causing the valine (V) at amino acid position 363 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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