ClinVar Miner

Submissions for variant NM_002108.3(HAL):c.1287+2T>C (rs141634423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779121 SCV000915615 uncertain significance Histidinemia 2018-10-19 criteria provided, single submitter clinical testing The HAL c.1287+2T>C variant occurs in a canonical splice site (donor) site and is therefore predicted to disrupt or distort the normal gene product. This variant has been reported in one study in which it is found in a heterozygous state in one individual with raised histidine levels from the Atherosclerosis Risk in Communities (ARIC) study (Yu et al. 2015). Control data are unavailable for the c.1287+2T>C variant, which has been reported at a frequency of 0.00070 in the European American population of the Exome Sequencing Project. The evidence for this variant is limited but in combination with the the potential impact of splice donor variants, the c.1287+2T>C variant is classified as a variant of unknown significance but suspicious for pathogenicity for histidinemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine RCV000211116 SCV000267160 association Increased histidine 2015-11-15 criteria provided, single submitter research Three heterozygous loss-of-function variants in HAL were found in 24/1152 African American individuals, in association with elevated serum histidine levels. Histidine level is a potential predictor of cardiovascular risk. Thus, loss-of-function variants in HAL may modify cardiovascular risk. Findings were replicated in a European American cohort.

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