NM_001330723.2(SNX27):c.629_630del (p.Glu210fs) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Jul 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001218740.1

Allele description [Variation Report for NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)]

NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)

Gene:
SNX27:sorting nexin 27 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)
HGVS:
  • NC_000001.11:g.151658314AG[3]
  • NM_001330723.2:c.629_630delMANE SELECT
  • NM_030918.6:c.629_630del
  • NP_001317652.1:p.Glu210fs
  • NP_112180.4:p.Glu210fs
  • NC_000001.10:g.151630790AG[3]
  • NC_000001.10:g.151630790_151630791del
  • NM_030918.5:c.629_630del
Protein change:
E210fs
Links:
Molecular consequence:
  • NM_001330723.2:c.629_630del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_030918.6:c.629_630del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001390638Invitaecriteria provided, single submitter
Pathogenic
(Jul 8, 2019)
germlineclinical testing

PubMed (2)
[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

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Damseh N, Danson CM, Al-Ashhab M, Abu-Libdeh B, Gallon M, Sharma K, Yaacov B, Coulthard E, Caldwell MA, Edvardson S, Cullen PJ, Elpeleg O.

Neurogenetics. 2015 Jul;16(3):215-221. doi: 10.1007/s10048-015-0446-0. Epub 2015 Apr 17.

PubMed [citation]
PMID:
25894286
PMCID:
PMC4962907

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001390638.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Glu210Valfs*44) in the SNX27 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SNX27-related conditions. Loss-of-function variants in SNX27 are known to be pathogenic (PMID: 25894286). 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 7, 2021

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