NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) AND Brown-Vialetto-van Laere syndrome 1

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000191959.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp)]

NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp)

Gene:

SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp)

HGVS:

NC_000020.11:g.765602A>T
NG_027687.1:g.7983T>A
NG_027687.2:g.15384T>A
NM_001370085.1:c.173T>A
NM_001370086.1:c.173T>A
NM_033409.4:c.173T>AMANE SELECT
NP_001357014.1:p.Val58Asp
NP_001357015.1:p.Val58Asp
NP_212134.3:p.Val58Asp
LRG_1394t1:c.173T>A
LRG_1394:g.15384T>A
LRG_1394p1:p.Val58Asp
NC_000020.10:g.746246A>T
NM_033409.3:c.173T>A
Q9NQ40:p.Val58Asp

Protein change:

V58D; Val58Asp

Links:

UniProtKB: Q9NQ40#VAR_077425; dbSNP: rs797045192

NCBI 1000 Genomes Browser:

rs797045192

Molecular consequence:

NM_001370085.1:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370086.1:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033409.4:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brown-Vialetto-van Laere syndrome 1
Synonyms:: BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; PONTOBULBAR PALSY WITH DEAFNESS; Pontobulbar palsy and neurosensory deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0024537; MedGen: C0796274; Orphanet: 97229; OMIM: 211530

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246211	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246211

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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	literature only

Citations

PubMed

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Ciccolella M, Catteruccia M, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L, Bizzi A, D'Amico A, Fattori F, Salsano ML, Pastore A, Tozzi G, Piemonte F, Bertini E.

Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21.

PubMed [citation]

PMID:: 22824638

Details of each submission

From GeneReviews, SCV000246211.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Oct 8, 2022

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