ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.164dup (p.Leu55fs)

dbSNP: rs1728771454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV001291943 SCV001480493 likely pathogenic Autosomal dominant optic atrophy classic form 2021-01-19 no assertion criteria provided clinical testing The p.Leu55PhefsTer18 variant is not previously described. This variant generates a stop codon at exon 2 and is likely to alter the biological function of the protein.

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