Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780399 | SCV000917621 | benign | not specified | 2018-08-02 | criteria provided, single submitter | clinical testing | Variant summary: MECP2 c.72A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.6e-05 in 197140 control chromosomes (gnomAD). The observed variant frequency is approximately 9-fold of the estimated maximal expected allele frequency for a pathogenic variant in MECP2 causing Rett Syndrome phenotype (8.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.72A>G in individuals affected with Rett Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV001510469 | SCV001717511 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619839 | SCV001846356 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |