ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)

dbSNP: rs875989805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000211110 SCV000268069 likely pathogenic Nance-Horan syndrome 2015-01-01 criteria provided, single submitter literature only
PreventionGenetics, part of Exact Sciences RCV004730908 SCV005338525 pathogenic NHS-related disorder 2024-05-30 no assertion criteria provided clinical testing The NHS c.694C>T variant is predicted to result in premature protein termination (p.Gln232*). This variant, previously reported as p.Q55X, has been documented in patients with Nance-Horan syndrome, including a female patient (Patient 5 in Fieremans et al 2016. PubMed ID: 27159028; Additional file 4 in Ling et al. 2019. PubMed ID: 30642278). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in NHS are expected to be pathogenic. This variant is interpreted as pathogenic.

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