ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr)

dbSNP: rs1887944313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799610 SCV001468838 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2019-07-25 criteria provided, single submitter clinical testing The heterozygous p.Ile1635Thr variant identified in CHD8 has not been reported in the gnomAD database indicating that it is an extremely rare allele in the populations represented in that database. The variant affects an evolutionary conserved reside and is predicted deleterious by in silico tools. The p.Ile1635Thr variant has not been reported in affected individuals in the literature. Based on the current evidence, the p.Ile1635Thrvariant in the CHD8 gene is assessed as a variant of uncertain clinical significance.

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