ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 3
- First in ClinVar:
- Dec 19, 2013
- Most recent Submission:
- Jul 27, 2019
- Last evaluated:
- Jan 1, 2017
- Accession:
- VCV000030579.3
- Variation ID:
- 30579
- Description:
- single nucleotide variant
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NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)
- Allele ID
- 39536
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 14q22.1
- Genomic location
- 14: 50623194 (GRCh38) GRCh38 UCSC
- 14: 51089912 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015915.5:c.1065C>A MANE Select NP_056999.2:p.Asn355Lys missense NM_001127713.1:c.1065C>A NP_001121185.1:p.Asn355Lys missense NM_181598.4:c.1065C>A NP_853629.2:p.Asn355Lys missense NC_000014.9:g.50623194C>A NC_000014.8:g.51089912C>A NG_009028.1:g.95113C>A LRG_360:g.95113C>A LRG_360t1:c.1065C>A LRG_360p1:p.Asn355Lys LRG_360t2:c.1065C>A LRG_360p2:p.Asn355Lys - Protein change
- N355K
- Other names
- -
- Canonical SPDI
- NC_000014.9:50623193:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA389674137
- OMIM: 606439.0010
- dbSNP: rs1555365597
- VarSome
- Comment on variant
- ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Jan 7, 2011 | RCV000023542.3 | |
| Pathogenic | 1 | criteria provided, single submitter | Jan 1, 2017 | RCV000626932.2 | |
| Uncertain significance | 1 | no assertion criteria provided | - | RCV000789726.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747635.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
|
|
|
Pathogenic
(Jan 07, 2011)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000044833.2
First in ClinVar: Apr 04, 2013 Last updated: Dec 19, 2013 |
Comment on evidence:
In affected members of a large 4-generation family with autosomal dominant hereditary sensory neuropathy type ID (HSN1D; 613708), Guelly et al. (2011) identified a heterozygous … (more)
In affected members of a large 4-generation family with autosomal dominant hereditary sensory neuropathy type ID (HSN1D; 613708), Guelly et al. (2011) identified a heterozygous 1065C-A transversion in exon 11 of the ATL1 gene, resulting in an asn355-to-lys (N355K) substitution. The mutation was not found in 370 controls. The phenotype was characterized by early adult onset of a severe distal st sensory axonal neuropathy with frequent ulcerations and amputation digits. In vitro functional expression studies in COS-7 cells showed that the mutant protein had decreased GTPase activity compared to wildtype, and caused disruption of endoplasmic reticulum 3-way junctions. (less)
|
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: literature only
|
Affected status: yes
Allele origin:
germline
|
Inherited Neuropathy Consortium
Accession: SCV000929103.1
First in ClinVar: Jul 27, 2019 Last updated: Jul 27, 2019 |
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. | Guelly C | American journal of human genetics | 2011 | PMID: 21194679 |
Text-mined citations for rs1555365597...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 17, 2022