ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) (rs397507175)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021959 SCV000797130 likely pathogenic Biotinidase deficiency 2018-01-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724643 SCV000230003 likely pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing
Invitae RCV000021959 SCV000817625 uncertain significance Biotinidase deficiency 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 245 of the BTD protein (p.Cys245Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs397507175, ExAC 0.003%). This variant has been reported as in combination with another BTD variant in individuals affected with biotinidase deficiency (PMID: 15776412). ClinVar contains an entry for this variant (Variation ID: 38281). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Research and Development, ARUP Laboratories RCV000021959 SCV000042628 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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