ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1579A>C (p.Lys527Gln) (rs766935532)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756449 SCV000884268 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing The OPA1: c.1744A>C; p.Lys582Gln variant (rs766935532) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The lysine at codon 582 is weakly conserved considering 12 species (Alamut software v2.10), and computational analyses suggest this variant does not have a significant effect on OPA1 protein structure/function (SIFT: tolerated and PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Lys582Gln variant cannot be determined with certainty.

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