NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro) AND Hypermanganesemia with dystonia, polycythemia, and cirrhosis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 9, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000023871.8

Allele description [Variation Report for NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)]

NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)

Gene:

SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)

HGVS:

NC_000001.11:g.219928175A>G
NG_032153.2:g.5477T>C
NM_001376929.1:c.452-1070T>C
NM_018713.3:c.266T>CMANE SELECT
NP_061183.2:p.Leu89Pro
NP_061183.2:p.Leu89Pro
NC_000001.10:g.220101517A>G
NM_018713.2:c.266T>C
NR_046437.2:n.383T>C
Q6XR72:p.Leu89Pro

Protein change:

L89P; LEU89PRO

Links:

UniProtKB: Q6XR72#VAR_072573; OMIM: 611146.0002; dbSNP: rs281860284

NCBI 1000 Genomes Browser:

rs281860284

Molecular consequence:

NM_001376929.1:c.452-1070T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018713.3:c.266T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_046437.2:n.383T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMNDYT1)
Synonyms:: Hypermanganesemia with dystonia 1; Hepatic Cirrhosis, Dystonia, Polycythemia and Hypermanganesemia; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013208; MedGen: C2750442; Orphanet: 309854; OMIM: 613280

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045162	OMIM	no assertion criteria provided	Pathogenic (Mar 9, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000054645	GeneReviews	no classification provided	not provided	unknown	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

SCV000045162

OMIM

no assertion criteria provided

Pathogenic
(Mar 9, 2012)

germline

literature only

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

SCV000054645

GeneReviews

no classification provided

not provided

unknown

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Erratum in: Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015.

PubMed [citation]

PMID:: 22341972
PMCID:: PMC3309187

Hypermanganesemia with Dystonia 1..

Tuschl K, Clayton PT, Gospe SM Jr, Mills PB.

2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 22934317

Details of each submission

From OMIM, SCV000045162.5

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

Description

In 3 Arab sisters, born of consanguineous parents, with hypermanganesemia with dystonia-1 (HMNDYT1; 613280), Tuschl et al. (2012) identified a homozygous 266T-C transition in exon 1 of the SLC30A10 gene, resulting in a leu89-to-pro (L89P) substitution in a highly conserved residue. The mutation was not found in 200 controls. In vitro functional expression studies in a yeast strain lacking a manganese transporter demonstrated that the L89P mutant protein was nonfunctional.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000054645.2

#	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	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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