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NM_006364.4(SEC23A):c.175G>A (p.Val59Ile) AND Craniolenticulosutural dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2021
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:
RCV001929949.4

Allele description [Variation Report for NM_006364.4(SEC23A):c.175G>A (p.Val59Ile)]

NM_006364.4(SEC23A):c.175G>A (p.Val59Ile)

Gene:
SEC23A:SEC23 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.1
Genomic location:
Preferred name:
NM_006364.4(SEC23A):c.175G>A (p.Val59Ile)
HGVS:
  • NC_000014.9:g.39095944C>T
  • NG_012157.1:g.12290G>A
  • NM_006364.2:c.175G>A
  • NM_006364.4:c.175G>AMANE SELECT
  • NP_006355.2:p.Val59Ile
  • NC_000014.8:g.39565148C>T
Protein change:
V59I
Links:
dbSNP: rs1887872116
NCBI 1000 Genomes Browser:
rs1887872116
Molecular consequence:
  • NM_006364.4:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniolenticulosutural dysplasia (CLSD)
Synonyms:
BOYADJIEV-JABS SYNDROME
Identifiers:
MONDO: MONDO:0011911; MedGen: C1843042; Orphanet: 50814; OMIM: 607812

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002130639Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 18, 2021) 		germlineclinical testing

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

Help

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, SCV002130639.2

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

Description

This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 59 of the SEC23A protein (p.Val59Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with SEC23A-related conditions.

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

Last Updated: May 7, 2024