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NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) AND Neu-Laxova syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003338713.1

Allele description [Variation Report for NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)]

NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)

Gene:
PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)
HGVS:
  • NC_000001.11:g.119734718C>G
  • NG_009188.1:g.27923C>G
  • NM_006623.4:c.595C>GMANE SELECT
  • NP_006614.2:p.Leu199Val
  • NC_000001.10:g.120277341C>G
  • NM_006623.3:c.595C>G
Protein change:
L199V
Links:
dbSNP: rs77632964
NCBI 1000 Genomes Browser:
rs77632964
Molecular consequence:
  • NM_006623.4:c.595C>G - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004049077Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Apr 11, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV004049077.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024