ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.70C>T (p.Arg24Cys)

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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 RCV004685162 SCV005180693 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.70C>T (p.R24C) alteration is located in exon 1 (coding exon 1) of the UNC13D gene. This alteration results from a C to T substitution at nucleotide position 70, causing the arginine (R) at amino acid position 24 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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