ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-59T>A

gnomAD frequency: 0.00001  dbSNP: rs768258310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667774 SCV000792278 uncertain significance Biotinidase deficiency 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667774 SCV003501596 uncertain significance Biotinidase deficiency 2022-04-23 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BTD mRNA. The next in-frame methionine is located at codon 21. This variant is present in population databases (rs768258310, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 552501). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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