ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.333del (p.Phe111fs)

dbSNP: rs397514356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000021922 SCV001810303 likely pathogenic Biotinidase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021922 SCV004211489 pathogenic Biotinidase deficiency 2022-05-15 criteria provided, single submitter clinical testing
GeneDx RCV004719972 SCV005325643 pathogenic not provided 2023-06-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 413 amino acids are replaced with 27 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35032046, 12359137, 31973013)

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