ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.4396T>G (p.Ser1466Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225884 SCV003806772 uncertain significance Holoprosencephaly 12 with or without pancreatic agenesis 2022-08-19 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, BP4 supporting
GeneDx RCV005054450 SCV005688045 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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