ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) (rs397514369)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790752 SCV000230013 likely pathogenic not provided 2012-12-11 criteria provided, single submitter clinical testing
Invitae RCV000021940 SCV000630337 pathogenic Biotinidase deficiency 2017-08-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 186 of the BTD protein (p.Cys186Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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 homozygous and in combination with another BTD variant in individuals affected with profound or partial biotinidase deficiency (PMID: 10801053, 23644139, 25754625) and in one individual with suspected BTD deficiency (PMID: 22011816). ClinVar contains an entry for this variant (Variation ID: 25020). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021940 SCV000042609 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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