ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.144C>G (p.Tyr48Ter) (rs1194477276)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779221 SCV000915766 likely pathogenic Severe congenital neutropenia 4, autosomal recessive 2017-07-28 criteria provided, single submitter clinical testing The G6PC3 c.144C>G (p.Tyr48Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. This variant has not been reported in the literature. However, another variant at the same locus, c.144C>A, that results in the same amino acid change (p.Tyr48Ter) has been reported in two studies in a total of two individuals with severe congenital neutropenia, one each in a homozygous state and a compound heterozygous state (Boztug et al. 2009; Notarangelo et al. 2014). The c.144C>A variant was absent from 150 control individuals (Notarangelo et al. 2014). The p.Tyr48Ter variant, from either the c.144C>G or c.144C>A change, is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the clinical evidence for the c.144C>A variant and the potential impact of stop-gained variants, the c.144C>G (p.Tyr48Ter) variant is classified as likely pathogenic for severe congenital neutropenia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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