VCV000011576.5 - ClinVar

NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (2)

2 out of 2 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)

Variation ID: 11576 Accession: VCV000011576.5

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: Xq13.3 X: 75070499 (GRCh38) [ NCBI UCSC ] X: 74290334 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 4, 2013	Jun 8, 2025	Apr 7, 2009

HGVS

Nucleotide	Protein	Molecular consequence
NM_001271696.3:c.1231G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001258625.1:p.Val411Leu	missense
NM_001271697.3:c.1111G>C	NP_001258626.1:p.Val371Leu	missense
NM_001271698.3:c.1153G>C	NP_001258627.1:p.Val385Leu	missense
NM_001271699.3:c.1114G>C	NP_001258628.1:p.Val372Leu	missense
NM_004299.6:c.1234G>C	NP_004290.2:p.Val412Leu	missense
NC_000023.11:g.75070499C>G
NC_000023.10:g.74290334C>G
NG_007980.3:g.90785G>C
LRG_1162:g.90785G>C
LRG_1162t1:c.1234G>C	LRG_1162p1:p.Val412Leu
LRG_1162t2:c.1231G>C	LRG_1162p2:p.Val411Leu

... more HGVS ... less HGVS

Protein change

V411L, V412L, V371L, V372L, V385L

Other names

Canonical SPDI

NC_000023.11:75070498:C:G

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA341105 OMIM: 300135.0003 dbSNP: rs80356713 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ABCB7		-	-	GRCh38 GRCh37	397	586

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
X-linked sideroblastic anemia with ataxia	Pathogenic (2)	no assertion criteria provided	Apr 7, 2009	RCV000012332.35

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Dec 01, 2001) C Contributing to aggregate classification	no assertion criteria provided	SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA	OMIM Accession: SCV000032566.3 First in ClinVar: Apr 04, 2013 Last updated: Jul 07, 2024	Publications: PubMed (2) PubMed: 11118249‚ 11843825 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: In 2 brothers with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310) originally reported by Hellier et al. (2001), Maguire et al. (2001) identified a … (more) In 2 brothers with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310) originally reported by Hellier et al. (2001), Maguire et al. (2001) identified a hemizygous c.1299G-C transversion in the ABCB7 gene, resulting in a val411-to-leu (V411L) substitution at the beginning of the last of 6 putative transmembrane regions of the protein. The mother was heterozygous for the mutation, and a maternal uncle with ataxia was hemizygous for the mutation. The patients had ataxia and hypochromic red cells with increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores, but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. Functional studies of the variant were not performed. (less)

Pathogenic (Apr 07, 2009) C Contributing to aggregate classification	no assertion criteria provided	X-Linked Sideroblastic Anemia and Ataxia	GeneReviews Accession: SCV000041062.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 08, 2025	Comment: show Converted during submission from pathologic to Pathogenic. (less) Observation: 1 Collection method: curation Allele origin: unknown Affected status: not provided Observation 1 Collection method: curation Allele origin: unknown Affected status: not provided

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
X-Linked Sideroblastic Anemia and Ataxia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.	Adam MP	-	2014	PMID: 20301496
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.	Maguire A	British journal of haematology	2001	PMID: 11843825
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?	Hellier KD	Journal of neurology, neurosurgery, and psychiatry	2001	PMID: 11118249

Text-mined citations for rs80356713 ...

These 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 Oct 10, 2026