ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) (rs1553547838)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625170 SCV000743993 pathogenic Cleft palate, isolated 2017-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625170 SCV000745950 pathogenic Cleft palate, isolated 2014-10-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680089 SCV000807529 pathogenic Chromosome 2q32-q33 deletion syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a set of 10-year-old male twins with intellectual disability, dysmorphisms, cleft palate, hyperextensibility
Ambry Genetics RCV000719613 SCV000850482 pathogenic History of neurodevelopmental disorder 2017-03-03 criteria provided, single submitter clinical testing The p.R459* pathogenic mutation (also known as c.1375C>T), located in coding exon 7 of the SATB2 gene, results from a C to T substitution at nucleotide position 1375. This changes the amino acid from an arginine to a stop codon within coding exon 7. This mutation occurred de novo in two patients with developmental delay and cleft palate (Deciphering Developmental Disorders Study. Nature, 2015 Mar;519:223-8; Lee JS et al. Clin. Genet., 2016 Jun;89:728-32). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics,Fulgent Genetics RCV000680089 SCV000894250 pathogenic Chromosome 2q32-q33 deletion syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000680089 SCV000837673 pathogenic Chromosome 2q32-q33 deletion syndrome 2017-06-02 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003958 SCV001161949 likely pathogenic Dystonia; Intellectual disability no assertion criteria provided research
GeneDx RCV001564846 SCV001788074 pathogenic not provided 2020-12-04 no assertion criteria provided 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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32581362, 25326635, 26596517, 28191890, 29436146, 28135719, 25533962, 28211976, 32446642)

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