ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.187G>A (p.Ala63Thr)

gnomAD frequency: 0.00001  dbSNP: rs769996976
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Total submissions: 4
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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, 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, LabCorp 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)."
GeneDx 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

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