Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705004 | SCV000833981 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764874 | SCV000896030 | uncertain significance | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000779753 | SCV000916528 | uncertain significance | not specified | 2017-11-07 | criteria provided, single submitter | clinical testing | Variant Summary: The ARX c.187G>A (p.Ala63Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured here due to low reliability index) predict a "benign" outcome. However, these predictions have yet to be functionally assessed. The variant of interest has been observed in the large, broad control population, ExAC, with an allele frequency of 0.00003175 (2/62990), predominantly observed in the Latino population at a frequency of 0.0002661(2/7517, including 1 hemizygote). This frequency does not exceed the estimated maximum expected allele frequency for a pathogenic ARX variant of 0.00141. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and/or functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)." |
Gene |
RCV001544836 | SCV001764047 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |