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NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 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:
RCV003226652.1

Allele description [Variation Report for NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)]

NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)
HGVS:
  • NC_000001.11:g.209629773G>A
  • NG_007116.1:g.27703C>T
  • NG_093308.1:g.526G>A
  • NG_093309.1:g.24G>A
  • NM_000228.3:c.1096C>TMANE SELECT
  • NM_001017402.2:c.1096C>T
  • NM_001127641.1:c.1096C>T
  • NP_000219.2:p.Arg366Trp
  • NP_001017402.1:p.Arg366Trp
  • NP_001121113.1:p.Arg366Trp
  • NC_000001.10:g.209803118G>A
  • NM_000228.2:c.1096C>T
Protein change:
R366W
Molecular consequence:
  • NM_000228.3:c.1096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001017402.2:c.1096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127641.1:c.1096C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003922573Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 23, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R, Sadowski S, Pfendner E, Uitto J.

J Med Genet. 2006 Aug;43(8):641-52. Epub 2006 Feb 10.

PubMed [citation]
PMID:
16473856
PMCID:
PMC2564586

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003922573.1

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

Description

Variant summary: LAMB3 c.1096C>T (p.Arg366Trp) results in a non-conservative amino acid change located in the Laminin-type EGF domain (IPR002049) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.7e-05 in 251468 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in LAMB3 causing Junctional Epidermolysis Bullosa (8.7e-05 vs 0.0024), allowing no conclusion about variant significance. c.1096C>T has been reported in the literature in individuals affected with non-Herlitz Junctional Epidermolysis Bullosa in compound heterozygosity with another variant of uncertain significance (Varki_2006). These report(s) do not provide unequivocal conclusions about association of the variant with Junctional Epidermolysis Bullosa. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: May 13, 2023