ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) (rs397514367)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623242 SCV000743079 pathogenic Inborn genetic diseases 2017-11-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000021938 SCV000485686 likely pathogenic Biotinidase deficiency 2016-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078074 SCV000230011 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000078074 SCV000490442 pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing The K176N pathogenic variant was identified in approximately 72% of alleles in Hispanic BTD patients, and is associated with profound biotinidase deficiency (Cowan et al. 2012; Norrgard et al. 1999). The K176N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret K176N as a pathogenic variant.
Invitae RCV000021938 SCV000630335 pathogenic Biotinidase deficiency 2018-05-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 176 of the BTD protein (p.Lys176Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs397514367, ExAC 0.03%). This variant is a prevalent BTD deficiency allele in the Hispanic population (PMID: 22698809). It has been reported as homozygous or in combination with another BTD variant in multiple individuals affected with profound biotinidase deficiency (<10% normal activity) as well as in two asymptomatic individuals identified through newborn screening (PMID: 22698809, 10400129). ClinVar contains an entry for this variant (Variation ID: 25018). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078074 SCV000600943 pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021938 SCV000042607 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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