ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)

gnomAD frequency: 0.00007  dbSNP: rs140918872
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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 RCV002544761 SCV000814310 likely benign Blau syndrome; Regional enteritis 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884704 SCV004701834 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NOD2: BS2
PreventionGenetics, part of Exact Sciences RCV004748904 SCV005349416 uncertain significance NOD2-related disorder 2024-04-18 no assertion criteria provided clinical testing The NOD2 c.1178G>A variant is predicted to result in the amino acid substitution p.Arg393His. This variant has been reported, along with the NOD2 c.2104C>T (p.Arg702Trp) variant, in an individual with Crohn's disease (Sample 6, King et al 2006. PubMed ID: 16278823). This variant is reported in 0.015% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including one homozygous individual, which may be too common to be causative. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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