NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001000516.8

Allele description [Variation Report for NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)]

NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)

Gene:

DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)

HGVS:

NC_000010.11:g.12097689G>A
NG_033248.1:g.33773G>A
NM_018706.5:c.1364G>A
NM_018706.7:c.1364G>AMANE SELECT
NP_061176.4:p.Arg455Gln
NC_000010.10:g.12139688G>A
NM_018706.4:c.1364G>A

Protein change:

R455Q

Links:

dbSNP: rs142068634

NCBI 1000 Genomes Browser:

rs142068634

Molecular consequence:

NM_018706.7:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001157422	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Apr 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001157422

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Apr 19, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157422.1

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

Description

The DHTKD1 c.1364G>A; p.Arg455Gln variant (rs142068634) has been detected in at least three patients diagnosed with alpha-aminoadipic and/or alpha-ketoadipic aciduria (Hagen 2015), but no further evidence of pathogenicity has, to our knowledge, been published in the medical literature. This variant is found in the non-Finnish European population with an overall allele frequency of 0.03% (32/126094 alleles) in the Genome Aggregation Database. The arginine at position 455 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Arg455Gln variant is uncertain at this time. References: Hagen J et al. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. J Inherit Metab Dis. 2015 Sep;38(5):873-9.

#	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		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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