ClinVar Miner

Submissions for variant NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)

gnomAD frequency: 0.00001  dbSNP: rs563575730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003988715 SCV004804826 likely pathogenic Hereditary spastic paraplegia 26 2024-01-29 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003988715 SCV005442765 likely pathogenic Hereditary spastic paraplegia 26 2025-01-07 criteria provided, single submitter clinical testing

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