NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2022
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:: RCV003239172.1

Allele description [Variation Report for NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)]

NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)

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.1709A>G (p.Asp570Gly)

HGVS:

NC_000010.11:g.12100215A>G
NG_033248.1:g.36299A>G
NG_033248.2:g.36263A>G
NM_018706.7:c.1709A>GMANE SELECT
NP_061176.4:p.Asp570Gly
NC_000010.10:g.12142214A>G
NM_018706.6:c.1709A>G

Protein change:

D570G

Molecular consequence:

NM_018706.7:c.1709A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003936604	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003936604

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 28, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003936604.1

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

Description

Reported in heterozygous state as a variant of uncertain significance in a patient with polyneuritis and suspected CMT (Vaeth et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29653220)

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

Last Updated: Sep 29, 2024

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