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NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2024
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:
RCV003994245.1

Allele description [Variation Report for NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)]

NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)

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.1118C>T (p.Pro373Leu)
HGVS:
  • NC_000010.11:g.12091643C>T
  • NG_033248.1:g.27727C>T
  • NM_018706.7:c.1118C>TMANE SELECT
  • NP_061176.4:p.Pro373Leu
  • NC_000010.10:g.12133642C>T
  • NC_000010.10:g.12133642C>T
  • NM_018706.3:c.1118C>T
Protein change:
P373L
Links:
dbSNP: rs556384043
NCBI 1000 Genomes Browser:
rs556384043
Molecular consequence:
  • NM_018706.7:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813167Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813167.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: DHTKD1 c.1118C>T (p.Pro373Leu) results in a non-conservative amino acid change located in the Dehydrogenase, E1 component (IPR001017) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251404 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1118C>T in individuals affected with 2-Aminoadipic 2-Oxoadipic Aciduria and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 973472). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024