ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1778T>C (p.Ile593Thr)

dbSNP: rs2064901290
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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 RCV003262056 SCV003967729 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.1778T>C (p.I593T) alteration is located in exon 20 (coding exon 20) of the UNC13D gene. This alteration results from a T to C substitution at nucleotide position 1778, causing the isoleucine (I) at amino acid position 593 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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