ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs)

dbSNP: rs2071236139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266407 SCV001444581 pathogenic Inborn genetic diseases 2021-10-27 criteria provided, single submitter clinical testing The c.6641_6642delAG (p.E2214Afs*11) alteration, located in coding exon 11 of the SPEN gene, results from a deletion of 2 nucleotides from position 6641 to 6642, causing a translational frameshift with a predicted alternate stop codon after 11 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported de novo in a patient with global developmental delay, hypotonia, autism, episodic hyperkinetic movements, precocious puberty, connective tissue features, and dysmorphic features (Radio, 2021). Based on the available evidence, this alteration is classified as pathogenic.
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001530943 SCV001468535 pathogenic not provided 2020-12-03 criteria provided, single submitter research

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