ClinVar Miner

Submissions for variant NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)

dbSNP: rs1588253471
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999138 SCV001155613 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000999138 SCV001756453 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36756855)
MGZ Medical Genetics Center RCV002275199 SCV002562245 likely pathogenic Macrocephaly, acquired, with impaired intellectual development 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV002275199 SCV005049813 likely pathogenic Macrocephaly, acquired, with impaired intellectual development 2024-03-26 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV002275199 SCV005685230 likely pathogenic Macrocephaly, acquired, with impaired intellectual development 2024-11-22 criteria provided, single submitter clinical testing The NFIB c.115C>T (p.Arg39Cys) variant has been reported in at least three unrelated individuals affected with NFIB-related developmental disorder (including macrocephaly, abnormal cortical gyration, ventriculomegaly, focal-onset seizure) (ClinVar Variation ID: 810358; personal communication). This variant has been reported to segregate with disease in one family (Gana S et al., PMID: 36756855) and to occur as de novo in another patient (personal communication). This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that may correlate with impact to NIFB function. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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