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NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp) AND DK1-congenital disorder of glycosylation

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 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:
RCV000639755.2

Allele description [Variation Report for NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)]

NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)

Gene:
DOLK:dolichol kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)
HGVS:
  • NC_000009.12:g.128946063C>T
  • NG_017009.1:g.6671G>A
  • NG_033111.1:g.3371C>T
  • NM_014908.4:c.1241G>AMANE SELECT
  • NP_055723.1:p.Gly414Asp
  • NP_055723.1:p.Gly414Asp
  • LRG_744t1:c.1241G>A
  • LRG_744:g.6671G>A
  • LRG_744p1:p.Gly414Asp
  • NC_000009.11:g.131708342C>T
  • NM_014908.3:c.1241G>A
Protein change:
G414D
Links:
dbSNP: rs1554826737
NCBI 1000 Genomes Browser:
rs1554826737
Molecular consequence:
  • NM_014908.4:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DK1-congenital disorder of glycosylation
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG Im; DK1 DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012556; MedGen: C1835849; Orphanet: 91131; OMIM: 610768

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000761336Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 25, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV000761336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces glycine with aspartic acid at codon 414 of the DOLK protein (p.Gly414Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOLK-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: May 7, 2024