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NM_007241.4(SNF8):c.304G>A (p.Val102Ile) AND Neurodevelopmental disorder plus optic atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003994560.1

Allele description [Variation Report for NM_007241.4(SNF8):c.304G>A (p.Val102Ile)]

NM_007241.4(SNF8):c.304G>A (p.Val102Ile)

Gene:
SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_007241.4(SNF8):c.304G>A (p.Val102Ile)
HGVS:
  • NC_000017.11:g.48937065C>T
  • NM_001317192.2:c.304G>A
  • NM_001317193.2:c.253G>A
  • NM_001317194.2:c.-88G>A
  • NM_007241.4:c.304G>AMANE SELECT
  • NP_001304121.1:p.Val102Ile
  • NP_001304122.1:p.Val85Ile
  • NP_009172.2:p.Val102Ile
  • NC_000017.10:g.47014427C>T
  • NM_007241.2:c.304G>A
  • NR_133679.2:n.412G>A
Protein change:
V102I; VAL102ILE
Links:
OMIM: 610904.0005
Molecular consequence:
  • NM_001317194.2:c.-88G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317192.2:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317193.2:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007241.4:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133679.2:n.412G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neurodevelopmental disorder plus optic atrophy
Identifiers:
MONDO: MONDO:0968947; MedGen: CN377627; OMIM: 620784

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812257OMIM
no assertion criteria provided
Pathogenic
(Apr 10, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, et al.

Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28.

PubMed [citation]
PMID:
38423010
PMCID:
PMC10940020

Details of each submission

From OMIM, SCV004812257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.304G-A transition (c.304G-A, NM_007241.4) in the SNF8 gene, resulting in a val102-to-ile (V102I) substitution, that was identified in compound heterozygous state in a patient (patient F1) with neurodevelopmental disorder plus optic atrophy (NEDOA; 620784) by Brugger et al. (2024), see 610904.0003.

In a patient (patient D1) with NEDOA, Brugger et al. (2024) identified compound heterozygosity for 2 mutations in the SNF8 gene, V102I and a c.423-1G-C transversion (610904.0006), predicted to result in a splicing abnormality. The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with disease in the family. The c.423-1G-C mutation was not present in the gnomAD database (v4.0.0).

In 2 sibs (patients E1 and E2) with NEDOA, Brugger et al. (2024) identified compound heterozygosity for 2 mutations in the SNF8 gene, V102I and a c.673_683delinsTGGA (610904.0007), predicted to result in an frameshift and premature termination (Asp225TrpfsTer99). The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, were present in the carrier state in the parents. The c.673_683delinsTGGA mutation was not present in the gnomAD database (v4.0.0).

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

Last Updated: Jun 23, 2024