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NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter) AND Neuronal ceroid lipofuscinosis 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 3, 2022
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:
RCV002872750.3

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)]

NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)

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.1071G>A (p.Trp357Ter)
HGVS:
  • NC_000004.12:g.127921891C>T
  • NG_008657.1:g.49094G>A
  • NM_001363520.3:c.870G>A
  • NM_001363521.3:c.756G>A
  • NM_001371590.2:c.936G>A
  • NM_001371591.2:c.1071G>A
  • NM_001371592.2:c.1077G>A
  • NM_001371593.2:c.957G>A
  • NM_001371594.2:c.924G>A
  • NM_001371595.1:c.789G>A
  • NM_001371596.2:c.1071G>AMANE SELECT
  • NM_001410765.1:c.621G>A
  • NM_152778.4:c.1071G>A
  • NP_001350449.1:p.Trp290Ter
  • NP_001350449.1:p.Trp290Ter
  • NP_001350450.1:p.Trp252Ter
  • NP_001350450.1:p.Trp252Ter
  • NP_001358519.1:p.Trp312Ter
  • NP_001358519.1:p.Trp312Ter
  • NP_001358520.1:p.Trp357Ter
  • NP_001358520.1:p.Trp357Ter
  • NP_001358521.1:p.Trp359Ter
  • NP_001358521.1:p.Trp359Ter
  • NP_001358522.1:p.Trp319Ter
  • NP_001358522.1:p.Trp319Ter
  • NP_001358523.1:p.Trp308Ter
  • NP_001358523.1:p.Trp308Ter
  • NP_001358524.1:p.Trp263Ter
  • NP_001358525.1:p.Trp357Ter
  • NP_001397694.1:p.Trp207Ter
  • NP_689991.1:p.Trp357Ter
  • LRG_833t1:c.1071G>A
  • LRG_833t2:c.1071G>A
  • LRG_833:g.49094G>A
  • LRG_833p1:p.Trp357Ter
  • LRG_833p2:p.Trp357Ter
  • NC_000004.11:g.128843046C>T
  • NM_001363520.2:c.870G>A
  • NM_001363521.2:c.756G>A
  • NM_001371590.1:c.936G>A
  • NM_001371591.1:c.1071G>A
  • NM_001371592.1:c.1077G>A
  • NM_001371593.1:c.957G>A
  • NM_001371594.1:c.924G>A
Protein change:
W207*
Molecular consequence:
  • NM_001363520.3:c.870G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363521.3:c.756G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371590.2:c.936G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371591.2:c.1071G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371592.2:c.1077G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371593.2:c.957G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371594.2:c.924G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371595.1:c.789G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371596.2:c.1071G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001410765.1:c.621G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152778.4:c.1071G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003238091Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 3, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB.

Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.

PubMed [citation]
PMID:
25227500
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003238091.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp357*) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915).

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

Last Updated: Sep 29, 2024