NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2024
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:: RCV004659186.1

Allele description [Variation Report for NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)]

NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)

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.593G>A (p.Arg198Gln)

HGVS:

NC_000005.10:g.156757598G>A
NG_008693.2:g.892256G>A
NM_000337.6:c.593G>AMANE SELECT
NM_001128209.2:c.590G>A
NM_172244.3:c.593G>A
NP_000328.2:p.Arg198Gln
NP_000328.2:p.Arg198Gln
NP_001121681.1:p.Arg197Gln
NP_758447.1:p.Arg198Gln
LRG_205t1:c.593G>A
LRG_205:g.892256G>A
LRG_205p1:p.Arg198Gln
NC_000005.9:g.156184609G>A
NM_000337.5:c.593G>A

Protein change:

R197Q

Links:

dbSNP: rs750459196

NCBI 1000 Genomes Browser:

rs750459196

Molecular consequence:

NM_000337.6:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128209.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172244.3:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005157070	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 30, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005157070

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 30, 2024)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV005157070.1

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

Description

The p.R198Q variant (also known as c.593G>A), located in coding exon 7 of the SGCD gene, results from a G to A substitution at nucleotide position 593. The arginine at codon 198 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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