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NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Dec 20, 2017
Accession:
VCV000568476.1
Variation ID:
568476
Description:
single nucleotide variant
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NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)

Allele ID
556917
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.33
Genomic location
1: 1232933 (GRCh38) GRCh38 UCSC
1: 1168313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.1232933G>A
NC_000001.10:g.1168313G>A
NM_080605.4:c.655G>A NP_542172.2:p.Val219Met missense
NG_033265.1:g.5685G>A
Protein change
V219M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 20, 2017 RCV000688846.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
B3GALT6 - - GRCh38
GRCh37
61 187

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 20, 2017)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, progeroid type, 2
Spondyloepimetaphyseal dysplasia with joint laxity
Allele origin: germline
Invitae
Accession: SCV000816472.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 219 of the B3GALT6 protein (p.Val219Met). The valine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jun 20, 2019