ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) (rs122468178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081781 SCV000113716 pathogenic not provided 2012-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000081781 SCV000321866 pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The R429H missense variant in the MBTPS2 gene has been reported previously in association with MBTPS2-related disorders (Oeffner et al., 2009; Naiki et al., 2011; Nakayama et al., 2001; Bornholdt et al., 2013). Functional studies of variants in the MBTPS2 gene showed reduced enzymatic activity of the MBTPS2 protein, with variants such as R429H that are closer to the intramembranous domain being more detrimental than missense changes in the amino-terminal portion of the protein (Oeffner et al., 2009; Bornholdt et al; 2013). This variant has been reported in association with ichthyosis follicularis with atrichia and photophobia (IFAP), as well as a more severe phenotype with additional features that constitute BRESK/BRESHECK syndrome. These features include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies, with or without Hirschprung disease and cleft palate or cryptorchidism (Naiki et al., 2011; Nakayama et al., 2001; Bornholdt et al., 2013).
OMIM RCV000012157 SCV000032391 pathogenic IFAP syndrome with or without BRESHECK syndrome 2012-01-01 no assertion criteria provided literature only

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