ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) (rs387907144)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481866 SCV000568233 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The R1075X variant in the ARID1B gene has been reported previously in association with Coffin-Siris syndrome (Santin et al., 2012; Mignot et al., 2016). This variant has also been reported in an individual with moderate to severe intellectual disability with no further clinical information provided (Grozeva et al., 2015). The R1075X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1075X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1075X as a pathogenic variant.
Ambry Genetics RCV000624305 SCV000741656 pathogenic Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Undiagnosed Diseases Network,NIH RCV000024215 SCV000746582 pathogenic Coffin-Siris syndrome 1 2017-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000024215 SCV000807315 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory as a de novo finding in a 4-year-old female with global delays, autism, dysmorphic features, fifth finger brachydactyly/nail hypoplasia.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000024215 SCV000890069 pathogenic Coffin-Siris syndrome 1 2017-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000024215 SCV000893703 pathogenic Coffin-Siris syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000024215 SCV000045506 pathogenic Coffin-Siris syndrome 1 2012-03-18 no assertion criteria provided literature only

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