ClinVar Miner

Submissions for variant NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) (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; Abnormality of the corpus callosum; 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 2018-02-28 criteria provided, single submitter clinical testing The R404X variant in the ASXL1 gene has been reported previously as de novo in association with Bohring-Opitz syndrome (Hoischen et al., 2011; Carlston et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R404X variant is observed in 4/246,248 total alleles in large population cohorts (Lek et al., 2016). However, somatic mosaicism for variants in ASXL can occur with aging, and the variants present in large population cohorts are most likely somatic (Carlston et al., 2017). We interpret R404X as a pathogenic variant.
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 RCV001198406 SCV001369334 pathogenic Hypertrichosis; Global developmental delay; Feeding difficulties; Abnormality of the corpus callosum; Delayed speech and language development; Glabellar hemangioma; Small for gestational age; Delayed gross motor development; Prominent metopic ridge; Delayed fine motor development; Intellectual disability, severe; Nasogastric tube feeding in infancy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199371 SCV001370470 pathogenic Ichthyosis (disease) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in heterozygous state.
OMIM RCV000023977 SCV000045268 pathogenic Bohring-Opitz syndrome 2011-06-26 no assertion criteria provided literature only

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