ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)

dbSNP: rs1792258600
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336298 SCV001529648 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2018-04-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. Defects in AUTS2 are the cause of Mental retardation, autosomal dominant 26 (MRD26) [MIM:615834], an autosomal dominant disorder characterized by intellectual disability, autism, developmental delay, short stature, microcephaly, cerebral palsy, kyphosis, and facial dysmorphisms [PMID 23332918]

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