ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994686 SCV004812634 uncertain significance Blau syndrome 2023-08-01 criteria provided, single submitter clinical testing This sequence change in NOD2 is predicted to replace phenylalanine with leucine at codon 47, p.(Phe47Leu). The phenylalanine residue is weakly conserved (100 vertebrates, UCSC), and is located in CARD1 domain. There is a small physicochemical difference between phenylalanine and leucine. The highest population minor allele frequency in the population database gnomAD v3.1 is 0.001% (1/68022 alleles) in the European non-Finnish population. To our knowledge, this variant has not been previously reported in the relevant scientific literature or databases. Computational evidence predicts a benign effect for the missense substitution (REVEL = 0.039). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, BP4

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