ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) (rs104893692)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000001980 SCV000441834 uncertain significance Biotinidase deficiency 2017-04-27 criteria provided, single submitter clinical testing The BTD c.1466A>C (Asn489Thr) variant has been reported in three studies and was found in a homozygous state in one individual with 10.8% of the mean normal biotinyl hydrolase activity (Pomponio et al. 1998). This individual was also homozygous for an additional polymorphism, and each of the individual's parents was shown to be a heterozygous carrier of both variants. Control data are unavailable for this variant, which is reported at a frequency of 0.00046 in the East Asian population of the Exome Aggregation Consortium. The p.Asn489Thr variant is present in a well-conserved residue and is predicted to abolish a putative N-linked glycosylation site (Pomponio et al. 1998; Pindolia et al. 2010). Based on the evidence, the p.Asn489Thr variant is classified as a variant of unknown significance but suspicious for pathogenicity for biotinidase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000001980 SCV000800649 uncertain significance Biotinidase deficiency 2018-01-05 criteria provided, single submitter clinical testing
OMIM RCV000001980 SCV000022138 pathogenic Biotinidase deficiency 1998-06-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000001980 SCV000042691 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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