NM_000231.3(SGCG):c.607A>G (p.Met203Val) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2020
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:: RCV001277473.1

Allele description [Variation Report for NM_000231.3(SGCG):c.607A>G (p.Met203Val)]

NM_000231.3(SGCG):c.607A>G (p.Met203Val)

Gene:

SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_000231.3(SGCG):c.607A>G (p.Met203Val)

HGVS:

NC_000013.11:g.23320665A>G
NG_008759.1:g.144745A>G
NM_000231.3:c.607A>GMANE SELECT
NM_001378244.1:c.661A>G
NM_001378245.1:c.607A>G
NM_001378246.1:c.607A>G
NP_000222.2:p.Met203Val
NP_001365173.1:p.Met221Val
NP_001365174.1:p.Met203Val
NP_001365175.1:p.Met203Val
LRG_207:g.144745A>G
NC_000013.10:g.23894804A>G

Protein change:

M203V

Links:

dbSNP: rs1883002488

NCBI 1000 Genomes Browser:

rs1883002488

Molecular consequence:

NM_000231.3:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378244.1:c.661A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378245.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378246.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
Synonyms:: Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001464427	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 19, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001464427

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 19, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001464427.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Aug 5, 2023

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