ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)

gnomAD frequency: 0.00007  dbSNP: rs368917354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236093 SCV000292764 uncertain significance not specified 2015-12-22 criteria provided, single submitter clinical testing The I1189V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The I1189V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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.
Invitae RCV000878391 SCV001021290 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277594 SCV002566323 uncertain significance Ehlers-Danlos syndrome 2021-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450722 SCV002613130 uncertain significance Inborn genetic diseases 2020-03-18 criteria provided, single submitter clinical testing The p.I1189V variant (also known as c.3565A>G), located in coding exon 17 of the ATP7A gene, results from an A to G substitution at nucleotide position 3565. The isoleucine at codon 1189 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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