ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)

dbSNP: rs2048683301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253619 SCV001429444 uncertain significance Developmental and epileptic encephalopathy, 1 2018-10-23 criteria provided, single submitter clinical testing This variant was identified as hemizygous
Institute of Human Genetics, University of Leipzig Medical Center RCV001255345 SCV001431675 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1128C>G, p.(Phe376Leu) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.

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