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NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2021
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:
RCV002541940.1

Allele description

NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)

Gene:
COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
HGVS:
  • NC_000002.12:g.237387626G>A
  • NG_008676.1:g.31582C>T
  • NM_004369.4:c.1268C>TMANE SELECT
  • NM_057164.5:c.92-6127C>T
  • NM_057165.5:c.650C>T
  • NM_057166.5:c.92-6127C>T
  • NM_057167.4:c.650C>T
  • NP_004360.2:p.Ala423Val
  • NP_476506.3:p.Ala217Val
  • NP_476508.2:p.Ala217Val
  • LRG_473:g.31582C>T
  • NC_000002.11:g.238296269G>A
  • NM_004369.3:c.1268C>T
Protein change:
A217V
Links:
dbSNP: rs181264679
NCBI 1000 Genomes Browser:
rs181264679
Molecular consequence:
  • NM_057164.5:c.92-6127C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_057166.5:c.92-6127C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004369.4:c.1268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057165.5:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003693772Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jul 26, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003693772.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1268C>T (p.A423V) alteration is located in exon 4 (coding exon 3) of the COL6A3 gene. This alteration results from a C to T substitution at nucleotide position 1268, causing the alanine (A) at amino acid position 423 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024