NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) AND 2-aminoadipic 2-oxoadipic aciduria

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Feb 2, 2025
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:: RCV000988327.17

Allele description [Variation Report for NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)]

NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)

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.209C>G (p.Ala70Gly)

HGVS:

NC_000010.11:g.12081526C>G
NG_033248.1:g.17610C>G
NM_018706.7:c.209C>GMANE SELECT
NP_061176.4:p.Ala70Gly
NC_000010.10:g.12123525C>G
NM_018706.6:c.209C>G

Protein change:

A70G

Links:

dbSNP: rs34644609

NCBI 1000 Genomes Browser:

rs34644609

Molecular consequence:

NM_018706.7:c.209C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: 2-aminoadipic 2-oxoadipic aciduria (AAKAD)
Synonyms:: Aminoadipic aciduria; ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
Identifiers:: MONDO: MONDO:0008774; MedGen: C1859817; Orphanet: 79154; OMIM: 204750

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001101356	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Feb 2, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001137996	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001101356

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Feb 2, 2025)

germline

clinical testing

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

SCV001137996

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001101356.6

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001137996.1

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

Last Updated: Apr 28, 2025

ClinVar

Relating variation to medicine