NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV001565401.10

Allele description [Variation Report for NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)]

NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)

Gene:
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
HGVS:
  • NC_000009.12:g.6558671G>A
  • NG_016397.1:g.92022C>T
  • NM_000170.3:c.1940C>TMANE SELECT
  • NP_000161.2:p.Pro647Leu
  • NP_000161.2:p.Pro647Leu
  • LRG_643t1:c.1940C>T
  • LRG_643:g.92022C>T
  • LRG_643p1:p.Pro647Leu
  • NC_000009.11:g.6558671G>A
  • NM_000170.2:c.1940C>T
Protein change:
P647L
Links:
dbSNP: rs201135624
NCBI 1000 Genomes Browser:
rs201135624
Molecular consequence:
  • NM_000170.3:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001788740GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 25, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001788740.1

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

Description

Observed with a variant on the opposite allele (in trans) in a patient with intellectual disability, dysmorphic features, and epilepsy who also had a variant in another gene that may be responsible for the phenotype (Loviglio et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27799067)

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

Last Updated: Nov 10, 2024