ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.925G>A (p.Val309Ile)

gnomAD frequency: 0.00549  dbSNP: rs72550758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968780 SCV001116254 benign Transcobalamin I deficiency 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811551 SCV002048661 likely benign not provided 2021-11-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811551 SCV005224388 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916266 SCV004733136 likely benign TCN1-related disorder 2024-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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