ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) (rs28934601)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001978 SCV000486494 pathogenic Biotinidase deficiency 2016-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000001978 SCV000894299 pathogenic Biotinidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000445043 SCV000516019 pathogenic not provided 2015-03-12 criteria provided, single submitter clinical testing The D252G missense variant has been reported previously in association with profound biotinidasedeficiency and is reported to occur in 6.7% of alleles from patients identified by newborn screening(Norrgard et al., 1999). Homozygosity for the D252G substitution has been described in asymptomatic adultswith profound biotinidase deficiency who have never taken biotin supplements (Norrgard et al., 1999).Furthermore, this variant has not been reported in symptomatic patients; however, supplementation withbiotin is still recommended for patients with profound biotinidase deficiency harboring the D252G mutation(Norrgard et al., 1999). We interpret K252G as a pathogenic variant.
Invitae RCV000001978 SCV000833941 pathogenic Biotinidase deficiency 2018-03-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 252 of the BTD protein (p.Asp252Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs28934601, ExAC 0.003%). This variant has been reported as homozygous or in combination with another BTD variant in individuals affected with biotinidase deficiency (PMID: 27657684, 28498829, 22698809, 26810761, 27629047). ClinVar contains an entry for this variant (Variation ID: 1901). 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 tolerated, 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.
OMIM RCV000001978 SCV000022136 pathogenic Biotinidase deficiency 1997-11-28 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000445043 SCV000600947 pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000001978 SCV000042630 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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