Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194439 | SCV000246744 | pathogenic | Wilson disease | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000194439 | SCV000798839 | pathogenic | Wilson disease | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000194439 | SCV000916620 | pathogenic | Wilson disease | 2018-01-18 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.2165dupT (p.Arg723GlufsX32) variant results in a premature termination codon, predicted to cause a truncated or absent ATP7B protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.778dupC, p.Gln260fsX10; c.845delT, p.Leu282fsX2; c.1145_1151delCCCAACT, p.Ser382fsX24). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/246180 control chromosomes at a frequency of 0.0000041 in gnomAD, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). This variant was reported in multiple WD patients (Coffey_2013, Nanji_1997, Forbes_2014). In addition, one clinical diagnostic laboratory/reputable database classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV000194439 | SCV001205573 | pathogenic | Wilson disease | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg723Glufs*32) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). This variant is present in population databases (rs768729972, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 9199563, 24555712, 30230192). It has also been observed to segregate with disease in related individuals. This variant is also known as 2164insT . ClinVar contains an entry for this variant (Variation ID: 210483). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000194439 | SCV001977342 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000194439 | SCV002780934 | likely pathogenic | Wilson disease | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000194439 | SCV004216348 | pathogenic | Wilson disease | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000194439 | SCV004238419 | pathogenic | Wilson disease | 2023-03-20 | criteria provided, single submitter | clinical testing |