ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2600del (p.Leu867fs)

dbSNP: rs761447836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222860 SCV002500064 uncertain significance not specified 2022-03-01 criteria provided, single submitter clinical testing Variant summary: HLCS c.2159delT (p.Leu720ProfsX31) variant is located in the last exon, predicted to replace the last 7 amino acids with an incorrect protein sequence, causing a frameshift which results in an extension of the protein. The variant was absent in 251000 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2159delT in individuals affected with Holocarboxylase Synthetase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002481030 SCV002782629 uncertain significance Holocarboxylase synthetase deficiency 2022-04-26 criteria provided, single submitter clinical testing

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