NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro) AND Brown-Vialetto-Van Laere syndrome 2

Clinical significance:Pathogenic (Last evaluated: Mar 17, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000032776.5

Allele description

NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro)

Gene:
SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro)
HGVS:
  • NC_000008.11:g.144359860T>C
  • NG_032872.1:g.6304T>C
  • NM_001253816.1:c.368T>C
  • NM_024531.4:c.368T>C
  • NP_001240744.1:p.Leu123Pro
  • NP_001240745.1:p.Leu123Pro
  • NP_078807.1:p.Leu123Pro
  • NC_000008.10:g.145583520T>C
  • NR_045600.1:n.860T>C
  • Q9HAB3:p.Leu123Pro
Protein change:
L123P; Leu123Pro
Links:
UniProtKB: Q9HAB3#VAR_077435; OMIM: 607882.0002; dbSNP: rs397514538
NCBI 1000 Genomes Browser:
rs397514538
Allele Frequency:
0.00001(C)
Molecular consequence:
  • NM_001253816.1:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045600.1:n.860T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)
Synonyms:
Riboflavin transporter deficiency type 2
Identifiers:
MedGen: C3553538; Orphanet: 97229; OMIM: 614707

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056540OMIMno assertion criteria providedPathogenic
(Nov 1, 2012)
germlineliterature only

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

SCV000246240GeneReviewsno assertion criteria providedPathogenic
(Mar 17, 2015)
germlineliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H.

J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.

PubMed [citation]
PMID:
22864630
PMCID:
PMC3470687

Details of each submission

From OMIM, SCV000056540.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a girl with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Haack et al. (2012) identified compound heterozygous mutations in the SLC52A2 gene: a 368T-C transition resulting in a leu123-to-pro (L123P) substitution, and a 1016T-C transition resulting in a leu339-to-pro (L339P; 607882.0003) substitution. Both mutations occurred at highly conserved residues. The mutations were found by exome sequencing and confirmed by Sanger sequencing. The 368T-C transition was absent from public SNP databases, but 1016T-C was found 3 times in the heterozygous state in 5,375 control exomes. Each unaffected parent was heterozygous for 1 of the mutations. Transfection of the mutations in HEK293 cells showed that both caused a significant decrease in SLC52A2 transporter activity compared to wildtype. At age 3 years, the patient presented with hearing impairment, progressive optic atrophy, and severe ataxia. Laboratory studies showed increased levels of several acylcarnitine and hydroxy-acylcarnitine species. Oral riboflavin supplementation resulted in improved fine motor skills and assisted gait and normalization of laboratory values.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000246240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 24, 2018