ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1132A>G (p.Ile378Val)

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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 RCV004969829 SCV005536243 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.1132A>G (p.I378V) alteration is located in exon 13 (coding exon 13) of the UNC13D gene. This alteration results from a A to G substitution at nucleotide position 1132, causing the isoleucine (I) at amino acid position 378 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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