NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) AND Charcot-Marie-Tooth disease type 1C

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 10, 2020
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:: RCV001325524.7

Allele description [Variation Report for NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)]

NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)

Gene:

LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

Preferred name:

NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg)

HGVS:

NC_000016.10:g.11553627A>G
NG_009008.1:g.38324T>C
NM_001136472.2:c.283T>CMANE SELECT
NM_001136473.1:c.283T>C
NM_004862.4:c.283T>C
NP_001129944.1:p.Cys95Arg
NP_001129945.1:p.Cys95Arg
NP_004853.2:p.Cys95Arg
LRG_253t1:c.283T>C
LRG_253:g.38324T>C
LRG_253p1:p.Cys95Arg
NC_000016.9:g.11647483A>G
NR_024320.2:n.417T>C

Protein change:

C95R

Links:

dbSNP: rs2064218551

NCBI 1000 Genomes Browser:

rs2064218551

Molecular consequence:

NM_001136472.2:c.283T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001136473.1:c.283T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004862.4:c.283T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_024320.2:n.417T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 1C
Synonyms:: CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; CMT 1C; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010995; MedGen: C0270913; Orphanet: 101083; OMIM: 601098

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001516517	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 10, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001516517

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 10, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001516517.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LITAF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 95 of the LITAF protein (p.Cys95Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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