ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.545C>T (p.Thr182Met)

gnomAD frequency: 0.00012  dbSNP: rs141308774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700208 SCV000828956 likely benign Neutrophil immunodeficiency syndrome 2023-11-13 criteria provided, single submitter clinical testing
Mendelics RCV000700208 SCV001141424 uncertain significance Neutrophil immunodeficiency syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533585 SCV003739606 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.545C>T (p.T182M) alteration is located in exon 6 (coding exon 6) of the RAC2 gene. This alteration results from a C to T substitution at nucleotide position 545, causing the threonine (T) at amino acid position 182 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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