ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)

gnomAD frequency: 0.00004  dbSNP: rs200428940
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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 RCV001144446 SCV001305045 uncertain significance Autosomal dominant optic atrophy classic form 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002557085 SCV003479400 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283996 SCV003959376 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.2366A>G (p.N789S) alteration is located in exon 24 (coding exon 24) of the OPA1 gene. This alteration results from a A to G substitution at nucleotide position 2366, causing the asparagine (N) at amino acid position 789 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003396771 SCV004106088 uncertain significance OPA1-related condition 2023-09-08 criteria provided, single submitter clinical testing The OPA1 c.2531A>G variant is predicted to result in the amino acid substitution p.Asn844Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0093% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-193380621-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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