ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1585C>G (p.Leu529Val)

gnomAD frequency: 0.00001  dbSNP: rs557323479
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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 RCV003249061 SCV003951932 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.1585C>G (p.L529V) alteration is located in exon 18 (coding exon 18) of the UNC13D gene. This alteration results from a C to G substitution at nucleotide position 1585, causing the leucine (L) at amino acid position 529 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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