ClinVar Miner

Submissions for variant NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)

gnomAD frequency: 0.00166  dbSNP: rs34832477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV000993669 SCV002099005 uncertain significance Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 2021-03-24 criteria provided, single submitter clinical testing
GeneDx RCV002290479 SCV002578274 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 34582790, 31630790)
Revvity Omics, Revvity RCV000993669 SCV004237462 uncertain significance Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 2023-06-12 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001027403 SCV000995912 uncertain significance Abnormality of neuronal migration no assertion criteria provided research
OMIM RCV000993669 SCV001146801 pathogenic Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 2023-11-02 no assertion criteria provided literature only

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