ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) (rs370736173)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235848 SCV000292881 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing The R1356W variant has not been published as pathogenic, nor has it been reported as a benign polymorphism 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, but the 1000 Genomes Project reports R1356W was observed in 2/130 (1.5%) alleles from individuals of Bengali background. The R1356W 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. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784893 SCV000923430 uncertain significance Menkes kinky-hair syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001084874 SCV001041569 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing

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