ClinVar Miner

Submissions for variant NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter)

dbSNP: rs2148264796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001579318 SCV001806781 uncertain significance Autistic behavior 2021-01-01 criteria provided, single submitter research
GeneDx RCV004728777 SCV005334434 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing Reported in an individual with speech delay, speech apraxia, ADHD, gait disturbance and hypotonia in the published literature (Bruel et al., 2022); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34707297)

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