ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-17+1G>A (rs1057516440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409752 SCV000485680 likely pathogenic Biotinidase deficiency 2016-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000409752 SCV000712499 likely pathogenic Biotinidase deficiency 2016-09-02 criteria provided, single submitter clinical testing The c.44+1G>A variant in BTD has not been previously reported in patients with b iotinidase deficiency and was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and i s predicted to cause altered splicing leading to an abnormal or absent protein. Biallelic loss of function of BTD has been associated with biotinidase deficienc y. In summary, although additional studies are required to fully establish its c linical significance, the c.44+1G>A variant in BTD is likely pathogenic.

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