ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) (rs145191476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578923 SCV000680728 pathogenic not provided 2017-12-19 criteria provided, single submitter clinical testing The S554X nonsense variant has been reported previously in association with Chudley-McCullough syndrome (Doherty et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 19/126378 (0.015%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
OMIM RCV000029165 SCV000051810 pathogenic Chudley-McCullough syndrome 2012-06-08 no assertion criteria provided literature only

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