ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)

dbSNP: rs397514404
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726739 SCV000702621 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000032016 SCV000797224 likely pathogenic Biotinidase deficiency 2018-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000032016 SCV000835807 pathogenic Biotinidase deficiency 2023-11-16 criteria provided, single submitter clinical testing This variant, c.1241_1252del, results in the deletion of 4 amino acid(s) of the BTD protein (p.Tyr414_Val417del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs397514404, gnomAD 0.002%). This variant has been observed in individual(s) with biotinidase deficiency (PMID: 9396567, 12359137, 26810761). This variant is also known as 1239del12. ClinVar contains an entry for this variant (Variation ID: 38573). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000726739 SCV001982833 pathogenic not provided 2021-04-05 criteria provided, single submitter clinical testing In-frame deletion of 4 amino acids in a non-repeat region predicted to critically alter the protein; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9396567, 12359137, 26810761)
Fulgent Genetics, Fulgent Genetics RCV000032016 SCV002807024 likely pathogenic Biotinidase deficiency 2022-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000032016 SCV003922838 pathogenic Biotinidase deficiency 2023-03-06 criteria provided, single submitter clinical testing Variant summary: BTD c.1181_1192del12 (p.Tyr394_Val397del) results in an in-frame deletion that is predicted to remove 4 amino acids from the encoded protein. The variant allele was found at a frequency of 8e-06 in 251318 control chromosomes. c.1181_1192del12 has been reported in the literature in multiple individuals affected with Biotinidase Deficiency (examples: Pomponio_1997, Wolf_2002). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=3) or likely pathogenic (n=2). Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV000032016 SCV004211460 pathogenic Biotinidase deficiency 2023-05-18 criteria provided, single submitter clinical testing

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