ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) (rs397514348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021911 SCV000798916 likely pathogenic Biotinidase deficiency 2018-03-28 criteria provided, single submitter clinical testing
Invitae RCV000021911 SCV001590142 pathogenic Biotinidase deficiency 2020-02-06 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 93 of the BTD protein (p.Tyr93Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs397514348, ExAC 0.006%). This variant has been observed to be homozygous and in combination with another BTD variant in individuals affected with biotinidase deficiency (PMID: 12359137, 26810761, 25144890, Invitae). ClinVar contains an entry for this variant (Variation ID: 24993). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021911 SCV000042580 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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