ClinVar Miner

Submissions for variant NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)

dbSNP: rs1580752093
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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 RCV004799277 SCV001431069 likely pathogenic Intellectual disability, autosomal dominant 34 2020-02-25 criteria provided, single submitter clinical testing The de novo missense variant p.Thr294Ala (also known as p.Thr166Ala) has been reported in the literature as de novo in a female affected with autism spectrum disorder [PMID: 25363768]. The variant is absent from the gnomAD database indicating it is an extremely rare allele in the general population. The p.Thr294Ala affects a highly conserved residue and is predicted deleterious by multiple in silico tools. However, functional studies are required to determine the functional consequences of this variant on normal function of COL4A3BPprotein.

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