ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) (rs150279202)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197961 SCV000251985 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The S177I variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S177I variant is observed in 21/66,450 (0.032%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). The S177I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S177I as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000400476 SCV000442616 likely benign Autosomal dominant optic atrophy classic form 2018-01-12 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.
Invitae RCV000197961 SCV001731400 benign not provided 2020-10-09 criteria provided, single submitter clinical testing

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