ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)

dbSNP: rs2151334254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567418 SCV001791096 likely pathogenic not provided 2019-03-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20689175, 17942008, 29359884, 15706485, 29262531)
Labcorp Genetics (formerly Invitae), Labcorp RCV001866006 SCV002208042 pathogenic Rubinstein-Taybi syndrome 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 1201902). This missense change has been observed in individual(s) with clinical features of Rubinstein-Taybi syndrome (PMID: 15706485; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1447 of the CREBBP protein (p.Thr1447Ile).

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