ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)

gnomAD frequency: 0.00002  dbSNP: rs563130304
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200402 SCV000252121 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing The D473N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports D473N was observed in 0.6% to 1.7% of alleles from individuals of South Asian background. The D473N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625913 SCV000746496 likely benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 2020-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847881 SCV002104899 likely benign Hereditary spastic paraplegia 2021-09-20 criteria provided, single submitter clinical testing
Invitae RCV000200402 SCV002382622 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000200402 SCV003811689 uncertain significance not provided 2020-11-13 criteria provided, single submitter clinical testing

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