ClinVar Miner

Submissions for variant NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) (rs397514627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000678045 SCV000803661 likely pathogenic Autistic disorder of childhood onset; Global developmental delay; Generalized hypotonia; Intellectual disability, severe 2016-09-21 criteria provided, single submitter clinical testing Parental studies indicated that this alteration is de novo in this individual. This alteration has been previously reported in the Human Gene Mutation Database and is associated with sporadic global developmental delay, hypotonia, and speech delay (GeneMatcher communication and de Ligt et al. (2012) N. Engl. J. Med. 367(20):1921-1929). This variant is not listed in the public SNP databases (ExAC, gnomAD) and is predicted to be deleterious or possibly damaging by multiple in silico algorithms (LRT, SIFT, PROVEAN, PolyPhen2-HumDiv). Based on the ACMG Guidelines for variant interpretation, using the criteria PS2, PS4 (downgraded to moderate), PM2, and PP3, this variant is classified as likely pathogenic.
OMIM RCV000033109 SCV000056890 pathogenic Intellectual disability, severe 2012-11-15 no assertion criteria provided literature only

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