ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro)

gnomAD frequency: 0.00041  dbSNP: rs137932369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926563 SCV001072126 benign X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544393 SCV003632646 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.113G>C (p.R38P) alteration is located in exon 1 (coding exon 1) of the MAGT1 gene. This alteration results from a G to C substitution at nucleotide position 113, causing the arginine (R) at amino acid position 38 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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