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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:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498566Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Likely pathogenic
(Apr 4, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023