ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1502dup (p.Asp502fs)

dbSNP: rs754073471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778465 SCV000914720 uncertain significance Blau syndrome 2018-09-25 criteria provided, single submitter clinical testing The NOD2 c.1576_1577insC (p.Asp529ArgfsTer50) variant results in a frameshift, and is predicted to cause an elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Asp529ArgfsTer50 variant is reported at a frequency of 0.000115 in the African population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for NOD2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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