ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1300A>T (p.Asn434Tyr) (rs1064796426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479075 SCV000573141 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing The N472Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N472Y variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N472Y variant is a semi-conservative amino acid substitution that occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant was inherited from a clinically unaffected adult relative of an individual tested at GeneDx, whereas most pathogenic variants in the CREBBP gene occur de novo. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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