ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)

gnomAD frequency: 0.00003  dbSNP: rs373145711
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415151 SCV000492722 pathogenic Developmental delay; dystrophia 2014-06-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414833 SCV000493027 pathogenic Hypertrichosis; Global developmental delay; Feeding difficulties; Abnormal corpus callosum morphology; Delayed speech and language development; Glabellar hemangioma; Small for gestational age; Delayed gross motor development; Prominent metopic ridge; Intellectual disability, severe 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000627196 SCV000748180 pathogenic not provided 2022-03-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31974359, 25525159, 21706002, 28229513, 25590979, 34527642)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000023977 SCV000992552 pathogenic Bohring-Opitz syndrome 2019-04-05 criteria provided, single submitter research ACMG codes: PVS1, PSM4, PP4, PP5
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199371 SCV001370470 pathogenic Myelodysplastic syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Duke University Health System Sequencing Clinic, Duke University Health System RCV000023977 SCV003919071 pathogenic Bohring-Opitz syndrome 2023-04-20 criteria provided, single submitter research
OMIM RCV000023977 SCV000045268 pathogenic Bohring-Opitz syndrome 2011-06-26 no assertion criteria provided literature only

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