ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)

gnomAD frequency: 0.00004  dbSNP: rs570167996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002555870 SCV001233613 likely benign Blau syndrome; Regional enteritis 2023-08-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003132207 SCV003815964 uncertain significance Blau syndrome 2019-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160562 SCV003878351 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.1975G>A (p.V659M) alteration is located in exon 4 (coding exon 4) of the NOD2 gene. This alteration results from a G to A substitution at nucleotide position 1975, causing the valine (V) at amino acid position 659 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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