NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) AND Severe myoclonic epilepsy in infancy

Clinical significance:Uncertain significance (Last evaluated: Mar 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000558417.1

Allele description [Variation Report for NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)]

NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)

Gene:
SNX27:sorting nexin 27 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)
HGVS:
  • NC_000001.11:g.151612319G>A
  • NM_001330723.2:c.118G>AMANE SELECT
  • NM_030918.6:c.118G>A
  • NP_001317652.1:p.Gly40Ser
  • NP_112180.4:p.Gly40Ser
  • NC_000001.10:g.151584795G>A
  • NM_030918.5:c.118G>A
Protein change:
G40S
Links:
dbSNP: rs1354158738
NCBI 1000 Genomes Browser:
rs1354158738
Molecular consequence:
  • NM_001330723.2:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030918.6:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000636260Invitaecriteria provided, single submitter
Uncertain significance
(Mar 9, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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, SCV000636260.1

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

Description

This sequence change replaces glycine with serine at codon 40 of the SNX27 protein (p.Gly40Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a SNX27-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 7, 2021

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