ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)

gnomAD frequency: 0.00004  dbSNP: rs772090345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146233 SCV001306965 likely benign Autosomal dominant optic atrophy classic form 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001566180 SCV001789660 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001566180 SCV002415415 likely benign not provided 2024-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649463 SCV005140668 uncertain significance Inborn genetic diseases 2024-03-26 criteria provided, single submitter clinical testing The c.563C>T (p.P188L) alteration is located in exon 5 (coding exon 5) of the OPA1 gene. This alteration results from a C to T substitution at nucleotide position 563, causing the proline (P) at amino acid position 188 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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