ClinVar Miner

Submissions for variant NM_139159.5(DPP9):c.902C>T (p.Thr301Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004190315 SCV003694507 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The c.902C>T (p.T301M) alteration is located in exon 9 (coding exon 7) of the DPP9 gene. This alteration results from a C to T substitution at nucleotide position 902, causing the threonine (T) at amino acid position 301 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989815 SCV004807671 uncertain significance Hatipoglu immunodeficiency syndrome 2024-03-29 criteria provided, single submitter clinical testing

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