ClinVar Miner

Submissions for variant NM_015650.4(TRAF3IP1):c.1860G>A (p.Met620Ile)

gnomAD frequency: 0.00039  dbSNP: rs142814134
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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 RCV003480906 SCV001197752 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552057 SCV003721158 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.1860G>A (p.M620I) alteration is located in exon 16 (coding exon 16) of the TRAF3IP1 gene. This alteration results from a G to A substitution at nucleotide position 1860, causing the methionine (M) at amino acid position 620 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480906 SCV004226037 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing BP4

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