ClinVar Miner

Submissions for variant NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) (rs918131106)

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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 RCV000679937 SCV000807371 uncertain significance Autistic disorder of childhood onset 2017-09-01 criteria provided, single submitter clinical testing A de novo mutation in BRWD1 was reported in one patient with autism [PMID: 22495309]. However, there is not sufficient data to confirm the effect of BRWD1 mutations. The c.2352G>A change is located at 3 base pairs downstream of the splice site of exon 21. Although the c.2352G>A change is predicted as a synonymous variant, this change may affect RNA splicing. Likely pathogenicity based on its de novo finding in an 8-year-old male with speech regression, autism spectrum, seizures, macrocephaly, large ears, penile pigmented nevi.

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