NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) AND Autosomal recessive limb-girdle muscular dystrophy type 2D

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 1995
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000010045.4

Allele description [Variation Report for NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)]

NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)

Gene:

SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)

Other names:

SGCA, 15-BP INS, GLU137GLY

HGVS:

NC_000017.11:g.50168398A>G
NG_008889.1:g.7394A>G
NM_000023.4:c.410A>GMANE SELECT
NM_001135697.3:c.410A>G
NP_000014.1:p.Glu137Gly
NP_001129169.1:p.Glu137Gly
LRG_203:g.7394A>G
NC_000017.10:g.48245759A>G
NR_135553.2:n.446A>G
Q16586:p.Glu137Gly

Protein change:

E137G; GLU137GLY

Links:

UniProtKB: Q16586#VAR_037966; OMIM: 600119.0004; dbSNP: rs397514451

NCBI 1000 Genomes Browser:

rs397514451

Molecular consequence:

NM_000023.4:c.410A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135697.3:c.410A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_135553.2:n.446A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMDR3)
Synonyms:: ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030266	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030266

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1995)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S, et al.

J Clin Invest. 1995 Sep;96(3):1202-7.

PubMed [citation]

PMID:: 7657792
PMCID:: PMC185739

Details of each submission

From OMIM, SCV000030266.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Kawai et al. (1995) reported homozygosity for a double mutation in the ADL gene in a Japanese family in which 5 individuals in 2 sibships over 2 successive generations were affected with limb-girdle muscular dystrophy type 2D (LGMDR3; 608099). In the case of each sibship, the parents were related as first cousins. The mutation consisted of a 410A-G transition, resulting in a glu137-to-gly (E137G) substitution. In addition, there was a 15-bp insertion between nucleotides 408 and 409 (between codons 136 and 137), which added 5 amino acids in-frame to the gene product. Muscle biopsy of affected patients showed complete absence of adhalin. The patients did not suffer from severe cardiac dysfunction or mental retardation, which are features of DMD. Indeed, one patient showed no symptoms of cardiac failure, even at 56 years of age.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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