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NM_002291.3(LAMB1):c.4477dup (p.Met1493fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2022
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:
RCV002847874.3

Allele description [Variation Report for NM_002291.3(LAMB1):c.4477dup (p.Met1493fs)]

NM_002291.3(LAMB1):c.4477dup (p.Met1493fs)

Gene:
LAMB1:laminin subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_002291.3(LAMB1):c.4477dup (p.Met1493fs)
HGVS:
  • NC_000007.14:g.107931421dup
  • NG_023255.1:g.76944dup
  • NM_002291.3:c.4477dupMANE SELECT
  • NP_002282.2:p.Met1493fs
  • NC_000007.13:g.107571860_107571861insT
  • NC_000007.13:g.107571866dup
Protein change:
M1493fs
Molecular consequence:
  • NM_002291.3:c.4477dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003225456Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 19, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):468-74. doi: 10.1016/j.ajhg.2013.02.005.

PubMed [citation]
PMID:
23472759
PMCID:
PMC3591846

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Tonduti D, Dorboz I, Renaldo F, Masliah-Planchon J, Elmaleh-Bergès M, Dalens H, Rodriguez D, Boespflug-Tanguy O.

Neurology. 2015 May 26;84(21):2195-7. doi: 10.1212/WNL.0000000000001607. Epub 2015 Apr 29. No abstract available.

PubMed [citation]
PMID:
25925986
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003225456.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LAMB1-related conditions. This variant is present in population databases (rs766890037, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Met1493Asnfs*6) in the LAMB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB1 are known to be pathogenic (PMID: 23472759, 25925986).

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

Last Updated: Sep 29, 2024