NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 13, 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:: RCV000671145.7

Allele description [Variation Report for NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)]

NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)

Gene:

SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)

HGVS:

NC_000013.11:g.23324379_23324384del
NG_008759.1:g.148459_148464del
NM_000231.3:c.714_719delMANE SELECT
NM_001378244.1:c.768_773del
NM_001378245.1:c.714_719del
NM_001378246.1:c.714_719del
NP_000222.2:p.Asp238_Ala239del
NP_001365173.1:p.Asp256_Ala257del
NP_001365174.1:p.Asp238_Ala239del
NP_001365175.1:p.Asp238_Ala239del
LRG_207:g.148459_148464del
NC_000013.10:g.23898515_23898520del
NC_000013.10:g.23898518_23898523del
NM_000231.2:c.714_719del6

Links:

dbSNP: rs1555248287

Molecular consequence:

NM_000231.3:c.714_719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378244.1:c.768_773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378245.1:c.714_719del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378246.1:c.714_719del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
Synonyms:: MUSCULAR DYSTROPHY, DUCHENNE-LIKE; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5
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
SCV000796095	Counsyl	no assertion criteria provided	Uncertain significance (Dec 1, 2017)	unknown	clinical testing
SCV003213777	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796095

Counsyl

no assertion criteria provided

Uncertain significance
(Dec 1, 2017)

unknown

clinical testing

SCV003213777

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 13, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Counsyl, SCV000796095.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003213777.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 555343). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.714_719del, results in the deletion of 2 amino acid(s) of the SGCG protein (p.Asp238_Ala239del), but otherwise preserves the integrity of the reading frame.

#	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: Apr 12, 2026

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