ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) (rs138958687)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757015 SCV000885040 likely benign not provided 2017-07-21 criteria provided, single submitter clinical testing The p.Glu968Gly variant (rs138958687) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.5 percent in the European Finnish population (identified on 98 out of 18,289 chromosomes, including 1 homozygote and 32 hemizygotes), and has been reported to ClinVar (Variation ID: 210436). The glutamic acid at position 968 is highly conserved across the vertebrates and computational analyses of the effects of the p.Glu968Gly variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Due to the clear over-abundance of the p.Glu968Gly variant hemizygotes in the European Finnish population from gnomAD, this variant is likely benign.
Genetic Services Laboratory, University of Chicago RCV000192884 SCV000246691 likely pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000558810 SCV000639977 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2016-11-26 criteria provided, single submitter clinical testing

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