ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310470 SCV002602456 likely pathogenic Holocarboxylase synthetase deficiency 2022-01-02 criteria provided, single submitter clinical testing NM_000411.6(HLCS):c.353_354delAG(E118Vfs*18) is expected to be pathogenic in the context of holocarboxylase synthetase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HLCS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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