ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.3121C>T (p.Arg1041Cys)

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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 RCV005288303 SCV005959633 uncertain significance Inborn genetic diseases 2025-01-04 criteria provided, single submitter clinical testing The c.3121C>T (p.R1041C) alteration is located in exon 31 (coding exon 31) of the UNC13D gene. This alteration results from a C to T substitution at nucleotide position 3121, causing the arginine (R) at amino acid position 1041 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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