NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 17, 2025
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000036266.7

Allele description [Variation Report for NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)]

NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)

HGVS:

NC_000005.10:g.156759365A>G
NG_008693.2:g.894023A>G
NM_000337.6:c.848A>GMANE SELECT
NM_001128209.2:c.845A>G
NP_000328.2:p.Gln283Arg
NP_000328.2:p.Gln283Arg
NP_001121681.1:p.Gln282Arg
LRG_205t1:c.848A>G
LRG_205:g.894023A>G
LRG_205p1:p.Gln283Arg
NC_000005.9:g.156186376A>G
NM_000337.5:c.848A>G
NM_001128209.1:c.845A>G
c.848A>G

Protein change:

Q282R

Links:

dbSNP: rs397516338

Molecular consequence:

NM_000337.6:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128209.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059918	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 25, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002555818	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Nov 17, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059918

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 25, 2014)

germline

clinical testing

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

SCV002555818

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Nov 17, 2025)

germline

clinical testing

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

Citation Link

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	germline	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.

Chen J, Jin Y, Wang H, Wei S, Chen D, Ying L, Zhou Q, Li G, Li J, Gao J, Kato N, Hu W, Li Y, Wang Y.

PLoS One. 2015;10(12):e0145602. doi: 10.1371/journal.pone.0145602.

PubMed [citation]

PMID:: 26720722
PMCID:: PMC4697846

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059918.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

p.Gln283Arg in exon 9 of SGCD: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (57/8734) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516338).

#	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		2	not provided	2	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002555818.2

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

Description

Variant summary: SGCD c.848A>G (p.Gln283Arg) results in a conservative amino acid change in the encoded protein sequence. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change. The variant allele was found at a frequency of 0.00056 in 248152 control chromosomes, predominantly at a frequency of 0.0076 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for disease-causing variants in SGCD. To our knowledge, no occurrence of c.848A>G in individuals affected with SGCD-related conditions has been reported. One publication reported the variant protein interacts with other SGC proteins in an identical manner as wild-type, although there is reduced cell surface expression of the complete SGC complex (Chen_2015). The following publication have been ascertained in the context of this evaluation (PMID: 26720722). ClinVar contains an entry for this variant (Variation ID: 43358). Based on the evidence outlined above, the variant was classified as likely benign.

#	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: Mar 7, 2026

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