NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 6, 2015
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:: RCV000423138.1

Allele description [Variation Report for NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)]

NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)

HGVS:

NC_000002.12:g.188994307G>A
NG_007404.1:g.24935G>A
NM_000090.4:c.1268G>AMANE SELECT
NP_000081.1:p.Gly423Asp
NP_000081.2:p.Gly423Asp
LRG_3t1:c.1268G>A
LRG_3:g.24935G>A
LRG_3p1:p.Gly423Asp
NC_000002.11:g.189859033G>A
NM_000090.3:c.1268G>A

Links:

dbSNP: rs587779586

NCBI 1000 Genomes Browser:

rs587779586

Molecular consequence:

NM_000090.4:c.1268G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000516827	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 6, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000516827

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 6, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000516827.1

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

Description

The G423D variant in the COL3A1 gene has been reported in a cohort of individuals with suspectedvascular-type EDS (Pepin et al., 2014). G423D results in a non-conservative amino acid substitution at aposition that is conserved across species. The G423D variant affects a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL3A1 gene, where the majority of missense variants occur(Stenson et al., 2014; Symoens et al., 2012). Furthermore, the G423D variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.Therefore, we consider this variant to be pathogenic.

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

Last Updated: Jun 2, 2024

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