ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)

gnomAD frequency: 0.00010  dbSNP: rs202052365
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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 RCV002529867 SCV000759533 likely benign Blau syndrome; Regional enteritis 2024-05-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261144 SCV002542725 uncertain significance Autoinflammatory syndrome 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004957926 SCV005457053 uncertain significance Inborn genetic diseases 2024-08-19 criteria provided, single submitter clinical testing The c.314C>T (p.A105V) alteration is located in exon 2 (coding exon 2) of the NOD2 gene. This alteration results from a C to T substitution at nucleotide position 314, causing the alanine (A) at amino acid position 105 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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