NM_022041.4(GAN):c.944C>T (p.Pro315Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 18, 2022
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:: RCV002374390.3

Allele description [Variation Report for NM_022041.4(GAN):c.944C>T (p.Pro315Leu)]

NM_022041.4(GAN):c.944C>T (p.Pro315Leu)

Gene:

GAN:gigaxonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

Preferred name:

NM_022041.4(GAN):c.944C>T (p.Pro315Leu)

HGVS:

NC_000016.10:g.81357902C>T
NG_009007.1:g.47937C>T
NM_001377486.1:c.305C>T
NM_022041.4:c.944C>TMANE SELECT
NP_001364415.1:p.Pro102Leu
NP_071324.1:p.Pro315Leu
NP_071324.1:p.Pro315Leu
LRG_242t1:c.944C>T
LRG_242:g.47937C>T
LRG_242p1:p.Pro315Leu
NC_000016.9:g.81391507C>T
NM_022041.3:c.944C>T
Q9H2C0:p.Pro315Leu

Protein change:

P102L

Links:

UniProtKB: Q9H2C0#VAR_054116; dbSNP: rs144486241

NCBI 1000 Genomes Browser:

rs144486241

Molecular consequence:

NM_001377486.1:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022041.4:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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RNA-binding protein 6 isoform 1 [Homo sapiens]
RNA-binding protein 6 isoform 1 [Homo sapiens]
gi|5032033|ref|NP_005768.1|

Protein
RecName: Full=Golgi-associated PDZ and coiled-coil motif-containing protein; Alt...
RecName: Full=Golgi-associated PDZ and coiled-coil motif-containing protein; AltName: Full=CFTR-associated ligand; AltName: Full=PDZ protein interacting specifically with TC10; Short=PIST
gi|81170631|sp|Q8BH60.1|GOPC_MOUSE

Protein
BX747742 XGC-gastrula Xenopus tropicalis cDNA clone TGas060h24 3', mRNA sequence
BX747742 XGC-gastrula Xenopus tropicalis cDNA clone TGas060h24 3', mRNA sequence
gi|38420482|gnl|dbEST|20464876|emb| 742.1|

Nucleotide
ELF7 hydroxyproline-rich glycoprotein family protein [Arabidopsis thaliana]
ELF7 hydroxyproline-rich glycoprotein family protein [Arabidopsis thaliana]
Gene ID:844312

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002684644	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 18, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 14718689, 17578852 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002684644

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 18, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C.

Neurology. 2004 Jan 13;62(1):13-6.

PubMed [citation]

PMID:: 14718689

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. Epub 2007 Jun 19.

PubMed [citation]

PMID:: 17578852
PMCID:: PMC2117591

Details of each submission

From Ambry Genetics, SCV002684644.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.P315L variant (also known as c.944C>T), located in coding exon 5 of the GAN gene, results from a C to T substitution at nucleotide position 944. The proline at codon 315 is replaced by leucine, an amino acid with similar properties. In one individual with giant axonal neuropathy, this alteration was detected in trans with a frameshift alteration in GAN (Houlden H et al. J Neurol Neurosurg Psychiatry, 2007 Nov;78:1267-70). This alteration was also detected as compound heterozygous with a missense alteration in GAN In another individual with giant axonal neuropathy; however, the phase of the variants was unknown (Bruno C et al. Neurology, 2004 Jan;62:13-6). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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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