ClinVar Miner

Submissions for variant NM_001080421.3(UNC13A):c.1031T>C (p.Leu344Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004219287 SCV003727950 uncertain significance not specified 2021-08-13 criteria provided, single submitter clinical testing The c.1031T>C (p.L344P) alteration is located in exon 10 (coding exon 10) of the UNC13A gene. This alteration results from a T to C substitution at nucleotide position 1031, causing the leucine (L) at amino acid position 344 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003954029 SCV004784481 likely benign UNC13A-related disorder 2022-03-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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