ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys)

gnomAD frequency: 0.00001  dbSNP: rs863224037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200121 SCV000251577 uncertain significance not provided 2014-07-24 criteria provided, single submitter clinical testing p.Ile410Lys (ATA>AAA): c.1229 T>A in exon 14 of the GFM2 gene (NM_032380.3). The I410K variant hasn't been published as a mutation or reported as a benign polymorphism to our knowledge. The I410K 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. The I410K substitution occurs at a position where amino acids with similar properties as Isoleucine are conserved across species. In silico analysis predicts that the I410K variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether I410K is a pathogenic mutation or a rare benign variant. The variant is found in LSME-MITOP panel(s).
GenomeConnect, ClinGen RCV001824675 SCV002075231 not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; Combined oxidative phosphorylation deficiency 39 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 08-12-2014 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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