ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) (rs1554236040)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599263 SCV000710040 pathogenic not provided 2018-01-18 criteria provided, single submitter clinical testing The R1624X variant in the ARID1B gene has been reported previously in an individual with a clinical suspicion for mucopolysaccharidosis (Al-Shamsi et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1624X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1624X as a pathogenic variant.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000677116 SCV000803188 pathogenic Coffin-Siris syndrome 1 2018-07-03 criteria provided, single submitter research
Baylor Genetics RCV000677116 SCV000807355 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory as a de novo finding in a 4-year-old male with global delays, dysmorphic features, macrocephaly, partial agenesis of corpus callosum, PFO, hirsutism.
Invitae RCV000599263 SCV001226119 pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1624*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 503753). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 24674232, 25674384). For these reasons, this variant has been classified as Pathogenic.

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