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NM_001371596.2(MFSD8):c.754+1G>A AND Neuronal ceroid lipofuscinosis 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2023
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:
RCV001204062.7

Allele description [Variation Report for NM_001371596.2(MFSD8):c.754+1G>A]

NM_001371596.2(MFSD8):c.754+1G>A

Gene:
MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
NM_001371596.2(MFSD8):c.754+1G>A
HGVS:
  • NC_000004.12:g.127938782C>T
  • NG_008657.1:g.32203G>A
  • NM_001363520.3:c.553+3263G>A
  • NM_001363521.3:c.439+4970G>A
  • NM_001371590.2:c.619+1G>A
  • NM_001371591.2:c.754+1G>A
  • NM_001371592.2:c.760+1G>A
  • NM_001371593.2:c.640+1G>A
  • NM_001371594.2:c.607+1G>A
  • NM_001371595.1:c.472+1G>A
  • NM_001371596.2:c.754+1G>AMANE SELECT
  • NM_001410765.1:c.304+4970G>A
  • NM_001410766.1:c.640+1G>A
  • NM_152778.4:c.754+1G>A
  • LRG_833t1:c.754+1G>A
  • LRG_833t2:c.754+1G>A
  • LRG_833:g.32203G>A
  • NC_000004.11:g.128859937C>T
  • NM_152778.2:c.754+1G>A
  • NM_152778.3:c.754+1G>A
Links:
dbSNP: rs868732642
NCBI 1000 Genomes Browser:
rs868732642
Molecular consequence:
  • NM_001363520.3:c.553+3263G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363521.3:c.439+4970G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410765.1:c.304+4970G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371590.2:c.619+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371591.2:c.754+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371592.2:c.760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371593.2:c.640+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371594.2:c.607+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371595.1:c.472+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371596.2:c.754+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001410766.1:c.640+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_152778.4:c.754+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 7 (CLN7)
Synonyms:
MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0012588; MedGen: C1838571; Orphanet: 168491; Orphanet: 228366; OMIM: 610951

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001375250Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Sep 29, 2023)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.

Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975.

PubMed [citation]
PMID:
19177532
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001375250.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 8 of the MFSD8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). Disruption of this splice site has been observed in individuals with variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) (PMID: 17564970, 19201763, 21990111). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 872266). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 20, 2024