ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs)

dbSNP: rs1564414831
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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 RCV000779021 SCV000915465 uncertain significance Histiocytic medullary reticulosis 2018-12-17 criteria provided, single submitter clinical testing The DCLRE1C c.928_929delAG (p.Ser310PhefsTer14) variant results in a frameshift, and is predicted to result in premature termination 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. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. 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 Omenn syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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