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NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) AND Autosomal recessive limb-girdle muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2021
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:
RCV001779022.1

Allele description [Variation Report for NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)]

NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
HGVS:
  • NC_000004.12:g.52029836G>A
  • NG_008891.1:g.13484C>T
  • NM_000232.5:c.271C>TMANE SELECT
  • NP_000223.1:p.Arg91Cys
  • NP_000223.1:p.Arg91Cys
  • LRG_204t1:c.271C>T
  • LRG_204:g.13484C>T
  • LRG_204p1:p.Arg91Cys
  • NC_000004.11:g.52896002G>A
  • NM_000232.4:c.271C>T
Protein change:
R91C
Links:
dbSNP: rs555514820
NCBI 1000 Genomes Browser:
rs555514820
Molecular consequence:
  • NM_000232.5:c.271C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy
Identifiers:
MONDO: MONDO:0015152; MedGen: C2931907; OMIM: PS253600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002015169Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Oct 4, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, et al.

Hum Mutat. 2008 Feb;29(2):258-66.

PubMed [citation]
PMID:
17994539

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T, Gicquel E, Poupiot J, N'Guyen L, Le Roy F, Bartoli M, Richard I.

Hum Mutat. 2012 Feb;33(2):429-39. doi: 10.1002/humu.21659. Epub 2011 Dec 22.

PubMed [citation]
PMID:
22095924
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002015169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Variant summary: SGCB c.271C>T (p.Arg91Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251452 control chromosomes. c.271C>T has been reported in the literature as a compound heterozygous or homozygous genotype in multiple individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (example, Duclos_1998, Guglieri_2008, Magri_2015). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function by confocal immunofluorescence analysis of non-permeabilized cells and classifies this variant as a class I - mutation that did not affect the membrane localization of Sarcoglycan B (Soheilli_2012). Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Jun 17, 2024