ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) (rs782010359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000224972 SCV000281772 uncertain significance Mental retardation 3, X-linked 2016-03-17 criteria provided, single submitter research
GeneDx RCV000493756 SCV000583278 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing Reported hemizygous in individuals with intellectual disability and seizures (Jolly et al., 2015; Bowling et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25740848, 28554332)

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