NM_004750.5(CRLF1):c.713del (p.Pro238fs) AND Cold-induced sweating syndrome 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 22, 2022
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:: RCV002285031.3

Allele description [Variation Report for NM_004750.5(CRLF1):c.713del (p.Pro238fs)]

NM_004750.5(CRLF1):c.713del (p.Pro238fs)

Gene:

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

Variant type:

Deletion

Preferred name:

NM_004750.5(CRLF1):c.713del (p.Pro238fs)

HGVS:

NC_000019.10:g.18597039del
NG_013370.1:g.14817del
NG_057411.1:g.421del
NM_004750.5:c.713delMANE SELECT
NP_004741.1:p.Pro238fs
NC_000019.9:g.18707849del
NM_004750.5:c.713delCMANE SELECT

Protein change:

P238fs

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
SCV002499267	Istanbul Faculty of Medicine, Istanbul University	no assertion criteria provided	Pathogenic (Apr 4, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002574836	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 22, 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

SCV002499267

Istanbul Faculty of Medicine, Istanbul University

no assertion criteria provided

Pathogenic
(Apr 4, 2022)

germline

clinical testing

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

SCV002574836

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 22, 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	4	not provided	not provided	1	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV002499267.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	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
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV002574836.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	1	Blood	not provided		2	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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