ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) (rs61733680)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000436240 SCV000109893 uncertain significance not provided 2013-02-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436240 SCV000510651 likely benign not provided 2016-10-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001001253 SCV000626867 likely benign Wilson disease 2020-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000436240 SCV000694469 uncertain significance not provided 2016-06-15 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.628A>G (p.Ile210Val) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index. This variant was found in 75/120704 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0066394 (65/9790). This frequency is slightly greater than the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006), suggesting this is variant may be a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. In addition, one clinical diagnostic laboratory classified this variant as a VUS. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001253 SCV001158422 uncertain significance Wilson disease 2019-04-25 criteria provided, single submitter clinical testing The ATP7B c.628A>G; p.Ile210Val variant (rs61733680), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 92390). This variant is found in the African population with an overall allele frequency of 0.63% (153/24192 alleles) in the Genome Aggregation Database. The isoleucine at codon 210 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ile210Val variant is uncertain at this time.

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