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NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) AND Neu-Laxova syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 4, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000144445.4

Allele description [Variation Report for NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)]

NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)

Gene:
PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)
HGVS:
  • NC_000001.11:g.119737177G>C
  • NG_009188.1:g.30382G>C
  • NM_006623.4:c.856G>CMANE SELECT
  • NP_006614.2:p.Ala286Pro
  • NC_000001.10:g.120279800G>C
Protein change:
A286P; ALA286PRO
Links:
OMIM: 606879.0010; dbSNP: rs587777775
NCBI 1000 Genomes Browser:
rs587777775
Molecular consequence:
  • NM_006623.4:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neu-Laxova syndrome 1 (NLS1)
Identifiers:
MONDO: MONDO:0009736; MedGen: C4551478; Orphanet: 2671; OMIM: 256520

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189512OMIM
no assertion criteria provided
Pathogenic
(Sep 4, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, et al.

Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

PubMed [citation]
PMID:
25152457
PMCID:
PMC4157144

Details of each submission

From OMIM, SCV000189512.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a fetus, conceived by consanguineous parents, with Neu-Laxova syndrome-1 (NLS1; 256520), Acuna-Hidalgo et al. (2014) identified a homozygous c.856G-C transversion in the PHGDH gene, resulting in an ala286-to-pro (A286P) substitution at a highly conserved residue in close proximity to the substrate binding domain. The mutation, which segregated with the disorder in the family, was not found in the Exome Variant Server database; functional studies were not performed.

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

Last Updated: Jul 8, 2022