NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro) AND Cold-induced sweating syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 4, 2022
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:: RCV002287528.2

Allele description [Variation Report for NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro)]

NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro)

Gene:

CRLF1:cytokine receptor like factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro)

HGVS:

NC_000019.10:g.18599795A>G
NG_013370.1:g.12056T>C
NM_004750.5:c.167T>CMANE SELECT
NP_004741.1:p.Leu56Pro
NC_000019.9:g.18710605A>G

Protein change:

L56P

Molecular consequence:

NM_004750.5:c.167T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cold-induced sweating syndrome 1 (CISS1)
Synonyms:: Crisponi syndrome; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
Identifiers:: MONDO: MONDO:0010091; MedGen: C1848947; Orphanet: 1545; Orphanet: 157820; OMIM: 272430

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002498566	Istanbul Faculty of Medicine, Istanbul University	no assertion criteria provided	Likely pathogenic (Apr 4, 2022)	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

SCV002498566

Istanbul Faculty of Medicine, Istanbul University

no assertion criteria provided

Likely pathogenic
(Apr 4, 2022)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U.

Clin Genet. 2022 Sep;102(3):201-217. doi: 10.1111/cge.14177. Epub 2022 Jul 12.

PubMed [citation]

PMID:: 35699517

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV002498566.1

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

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

Last Updated: Aug 5, 2023

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