ClinVar Miner

Submissions for variant NM_000411.8(HLCS):c.1680+1G>A (rs1175936807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664724 SCV000788730 likely pathogenic Holocarboxylase synthetase deficiency 2016-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000664724 SCV000915950 uncertain significance Holocarboxylase synthetase deficiency 2017-09-05 criteria provided, single submitter clinical testing The HLCS c.1680+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. 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 splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for holocarboxylase synthetase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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