Submissions for variant NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)

dbSNP: rs1599947052

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000816443	SCV000956953	uncertain significance	3-Methylglutaconic aciduria type 3; Optic atrophy 3	2022-02-17	criteria provided, single submitter	clinical testing	This sequence change results in a frameshift in the OPA3 gene (p.Gln157Alafs*77). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the OPA3 protein and extend the protein by 52 additional amino acid residues. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with OPA3-related conditions. This variant is not present in population databases (gnomAD no frequency). The OPA3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001017989.2, which corresponds to position c.*24379_*24382dup in NM_025136.3, the primary transcript listed in the Methods.