ClinVar Miner

Submissions for variant NM_016390.4(SPOUT1):c.1058C>T (p.Thr353Met)

gnomAD frequency: 0.00001  dbSNP: rs1018452459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center RCV004586460 SCV005073684 likely pathogenic Neurodevelopmental disorder 2024-07-05 criteria provided, single submitter clinical testing Based on ACMG Variant Interpretation Guidelines: PS3, PM2, PM3, PP3
Institute of Human Genetics, University of Leipzig Medical Center RCV004759425 SCV005368446 uncertain significance SPOUT1-associated neurodevelopmental disorder 2024-07-24 criteria provided, single submitter clinical testing This variant was identified as homozygous. Two affected brothers, consanguinous parents
OMIM RCV005254921 SCV005907137 pathogenic NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES 2025-04-07 no assertion criteria provided literature only

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