ClinVar Miner

Submissions for variant NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys)

gnomAD frequency: 0.00469  dbSNP: rs190351859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513994 SCV000610514 benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000513994 SCV001095339 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258233 SCV001435139 benign Autism criteria provided, single submitter research The homozygous p.Arg1165Cys variant, sometimes called p.Arg125Cys due to a difference in cDNA numbering, in CLTCL1 has been identified in 2 siblings from 1 family with autism (PMID: 22511880), and has been identified in >4% of Latino chromosomes and 6 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autism.

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