Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000903549 | SCV001048021 | likely benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001333229 | SCV001525753 | uncertain significance | Intellectual disability, autosomal recessive 56 | 2018-05-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005056669 | SCV005726114 | likely benign | not specified | 2024-11-20 | criteria provided, single submitter | clinical testing | Variant summary: ZC3H14 c.853A>T (p.Ser285Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00032 in 250578 control chromosomes, predominantly at a frequency of 0.0047 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in ZC3H14 causing Intellectual Disability, Autosomal Recessive 56 phenotype. To our knowledge, no occurrence of c.853A>T in individuals affected with Intellectual Disability, Autosomal Recessive 56 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 728973). Based on the evidence outlined above, the variant was classified as likely benign. |