ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) (rs397514404)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032016 SCV000797224 likely pathogenic Biotinidase deficiency 2018-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726739 SCV000702621 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Invitae RCV000032016 SCV000835807 likely pathogenic Biotinidase deficiency 2018-02-23 criteria provided, single submitter clinical testing This variant, c.1241_1252delATCTCCACGTCT, results in the deletion of 4 amino acids of the BTD protein (p.Tyr414_Val417del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as in combination with BTD pathogenic variants in individuals affected with biotinidase deficiency (PMID: 9396567, 12359137, 26810761). This variant is also known as 1239del12 in the literature. ClinVar contains an entry for this variant (Variation ID: 38573). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories RCV000032016 SCV000055343 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 0.5 U/L. Seen with c.1330G>C,p.D444H.

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