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NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val) AND Congenital myasthenic syndrome 8

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 1, 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:
RCV000651385.8

Allele description [Variation Report for NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)]

NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)

Gene:
AGRN:agrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)
HGVS:
  • NC_000001.11:g.1049957C>T
  • NG_016346.1:g.34835C>T
  • NM_001305275.2:c.4799C>T
  • NM_001364727.2:c.4484C>T
  • NM_198576.4:c.4799C>TMANE SELECT
  • NP_001292204.1:p.Ala1600Val
  • NP_001351656.1:p.Ala1495Val
  • NP_940978.2:p.Ala1600Val
  • LRG_198:g.34835C>T
  • NC_000001.10:g.985337C>T
  • NM_198576.3:c.4799C>T
Protein change:
A1495V
Links:
dbSNP: rs370833536
NCBI 1000 Genomes Browser:
rs370833536
Molecular consequence:
  • NM_001305275.2:c.4799C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364727.2:c.4484C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198576.4:c.4799C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myasthenic syndrome 8
Synonyms:
MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
Identifiers:
MONDO: MONDO:0014052; MedGen: C3808739; Orphanet: 590; OMIM: 615120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000773236Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2021) 		germlineclinical testing

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

SCV001749918GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000773236.4

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

Description

This sequence change replaces alanine with valine at codon 1600 of the AGRN protein (p.Ala1600Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs370833536, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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

From GenomeConnect - Invitae Patient Insights Network, SCV001749918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 12-18-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024