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NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) AND History of neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2016
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:
RCV000721055.1

Allele description [Variation Report for NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)]

NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)

Gene:
L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
HGVS:
  • NC_000023.11:g.153872214C>T
  • NG_009645.3:g.42010G>A
  • NM_000425.5:c.338G>A
  • NM_001143963.2:c.323G>A
  • NM_001278116.2:c.338G>AMANE SELECT
  • NM_024003.3:c.338G>A
  • NP_000416.1:p.Arg113His
  • NP_001137435.1:p.Arg108His
  • NP_001265045.1:p.Arg113His
  • NP_076493.1:p.Arg113His
  • LRG_14t1:c.338G>A
  • LRG_14t2:c.338G>A
  • LRG_14p1:p.Arg113His
  • LRG_14p2:p.Arg113His
  • NC_000023.10:g.153137669C>T
  • NM_000425.3:c.338G>A
  • NM_000425.4:c.338G>A
Protein change:
R108H
Links:
dbSNP: rs781908326
NCBI 1000 Genomes Browser:
rs781908326
Molecular consequence:
  • NM_000425.5:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001143963.2:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278116.2:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024003.3:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851940Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Sep 16, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851940.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R113H variant (also known as c.338G>A), located in coding exon 4 of the L1CAM gene, results from a G to A substitution at nucleotide position 338. The arginine at codon 113 is replaced by histidine, an amino acid with highly similar properties. This variant co-segregated with disease in one family tested in our laboratory. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024