Submissions for variant NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001543433	SCV005384855	pathogenic	not provided	2024-04-24	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34715294, 33057194, 37541188, 36553517, 35982159)
PreventionGenetics, part of Exact Sciences	RCV004536168	SCV004113511	likely pathogenic	NFIA-Related Disorder	2022-08-26	criteria provided, single submitter	clinical testing	The NFIA c.1051C>T variant is predicted to result in premature protein termination (p.Arg351*). To our knowledge, this variant has not been previously reported in association with disease. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NFIA are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Laboratoire de Génétique Moléculaire, CHU Bordeaux	RCV003148991	SCV003836693	pathogenic	Brain malformations with or without urinary tract defects	2020-05-29	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001543433	SCV001761997	likely pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing

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