ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.806C>T (p.Ala269Val) (rs1057520533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428786 SCV000515923 likely pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing The A289V missense variant has also been reported in association with profound biotinidase deficiency in a Hispanic patient who harbored both the A289V and K176N variants (Cowan et al., 2012). This variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A missense variant in the same residue (A289P) has been reported in assocaition with biotinidase deficiceny (Norrgard et al., 1999). Therefore, we interpret this variant to be pathogenic.
Counsyl RCV000675056 SCV000800511 uncertain significance Biotinidase deficiency 2017-03-29 criteria provided, single submitter clinical testing

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