NM_001370658.1(BTD):c.566G>A (p.Arg189His) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 23, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000507456.17

Allele description [Variation Report for NM_001370658.1(BTD):c.566G>A (p.Arg189His)]

NM_001370658.1(BTD):c.566G>A (p.Arg189His)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.566G>A (p.Arg189His)

HGVS:

NC_000003.12:g.15644482G>A
NG_008019.2:g.48131G>A
NG_008019.3:g.48132G>A
NM_000060.4:c.626G>A
NM_001281723.4:c.566G>A
NM_001281724.3:c.566G>A
NM_001281725.3:c.566G>A
NM_001323582.2:c.566G>A
NM_001370658.1:c.566G>AMANE SELECT
NM_001370752.1:c.566G>A
NM_001370753.1:c.399+2425G>A
NM_001407364.1:c.566G>A
NM_001407365.1:c.566G>A
NM_001407366.1:c.566G>A
NM_001407367.1:c.566G>A
NM_001407368.1:c.566G>A
NM_001407369.1:c.566G>A
NM_001407370.1:c.566G>A
NM_001407371.1:c.566G>A
NM_001407372.1:c.566G>A
NM_001407373.1:c.566G>A
NM_001407374.1:c.566G>A
NM_001407375.1:c.566G>A
NM_001407376.1:c.566G>A
NM_001407377.1:c.566G>A
NM_001407378.1:c.566G>A
NM_001407379.1:c.566G>A
NP_000051.1:p.Arg209His
NP_000051.1:p.Arg209His
NP_001268652.2:p.Arg189His
NP_001268652.2:p.Arg189His
NP_001268653.2:p.Arg189His
NP_001268654.1:p.Arg189His
NP_001268654.1:p.Arg189His
NP_001310511.1:p.Arg189His
NP_001310511.1:p.Arg189His
NP_001357587.1:p.Arg189His
NP_001357681.1:p.Arg189His
NP_001394293.1:p.Arg189His
NP_001394294.1:p.Arg189His
NP_001394295.1:p.Arg189His
NP_001394296.1:p.Arg189His
NP_001394297.1:p.Arg189His
NP_001394298.1:p.Arg189His
NP_001394299.1:p.Arg189His
NP_001394300.1:p.Arg189His
NP_001394301.1:p.Arg189His
NP_001394302.1:p.Arg189His
NP_001394303.1:p.Arg189His
NP_001394304.1:p.Arg189His
NP_001394305.1:p.Arg189His
NP_001394306.1:p.Arg189His
NP_001394307.1:p.Arg189His
NP_001394308.1:p.Arg189His
NC_000003.11:g.15685989G>A
NM_001281723.3:c.566G>A
NM_001281724.1:c.632G>A
NM_001281725.2:c.566G>A
NM_001323582.1:c.566G>A
NM_001370658.1:c.566G>A

Protein change:

R189H

Links:

dbSNP: rs398123139

NCBI 1000 Genomes Browser:

rs398123139

Molecular consequence:

NM_001370753.1:c.399+2425G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109914	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (Aug 21, 2018)	germline	clinical testing	Citation Link,
SCV000600944	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jul 9, 2020)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 24797656, 25144890, 26589311, 25754625, 26361991, 26810761, 26467025
SCV001446641	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109914

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(Aug 21, 2018)

germline

clinical testing

Citation Link,

SCV000600944

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Jul 9, 2020)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV001446641

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 23, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.

Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.

PubMed [citation]

PMID:: 24797656

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B.

Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.

PubMed [citation]

PMID:: 25144890

See all PubMed Citations (8)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109914.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600944.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The variant has been found in at least one symptomatic patient. The variant occurs in multiple cases with a lone recessive pathogenic/likely pathogenic variant in the same gene, and several have phenotype known to be consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446641.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 14, 2025

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