ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.445del (p.Leu149fs)

dbSNP: rs780299639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664446 SCV000788410 uncertain significance 3-Methylglutaconic aciduria type 3 2017-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485516 SCV002783702 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2021-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532031 SCV003687287 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.445delC (p.L149Wfs*67) alteration, located in exon 2 (coding exon 2) of the OPA3 gene, consists of a deletion of one nucleotide at position 445, causing a translational frameshift with a predicted alternate stop codon after 67 amino acids. Frameshift alterations are typically deleterious in nature (Richards, 2015). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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