ClinVar Miner

Submissions for variant NM_006390.4(IPO8):c.339G>A (p.Met113Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002648742 SCV003532409 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.339G>A (p.M113I) alteration is located in exon 4 (coding exon 4) of the IPO8 gene. This alteration results from a G to A substitution at nucleotide position 339, causing the methionine (M) at amino acid position 113 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004725567 SCV005328839 likely benign VISS syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004725567 SCV005397389 uncertain significance VISS syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at position 339 of the coding sequence of the IPO8 gene that results in a methionine to isoleucine amino acid change at residue 113 of the importin 8 protein. This is a previously reported variant (ClinVar 2205776) that has not been observed in individuals affected by IPO8-related disease in the literature, to our knowledge. This variant is present in 136 of 281524 alleles (0.0483%) in the gnomAD population dataset. Bioinformatic tools are inconclusive if this amino acid change will be damaging or tolerated, and the Met113 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functiol consequence of this variant have not been published, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: PM2

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