ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1737G>C (p.Gln579His)

dbSNP: rs538099724
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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 RCV000280763 SCV000442628 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.
GeneDx RCV001753810 SCV002006794 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001753810 SCV002950443 benign not provided 2023-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523256 SCV003690285 uncertain significance Inborn genetic diseases 2022-03-30 criteria provided, single submitter clinical testing The c.1572G>C (p.Q524H) alteration is located in exon 16 (coding exon 16) of the OPA1 gene. This alteration results from a G to C substitution at nucleotide position 1572, causing the glutamine (Q) at amino acid position 524 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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