ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) (rs137852218)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599522 SCV000709912 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing The R124X nonsense variant in the PORCN gene has been reported previously in association with Goltz syndrome including as a de novo occurrence (Grzeschik et al., 2007; Bornholdt et al., 2009; Lombardi et al., 2011; Wang et al., 2007). The variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies of the R124X variant have shown that it impairs normal WNT3A secretions and may subsequently impact Wnt signaling (Liu et al., 2012).
OMIM RCV000011448 SCV000031680 pathogenic Focal dermal hypoplasia 2007-07-01 no assertion criteria provided literature only

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