NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) AND Cystic fibrosis

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jan 26, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000577324.3

Allele description [Variation Report for NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)]

NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)

HGVS:

NC_000007.14:g.117540324T>C
NG_016465.4:g.79541T>C
NM_000492.4:c.1094T>CMANE SELECT
NP_000483.3:p.Leu365Pro
NP_000483.3:p.Leu365Pro
LRG_663t1:c.1094T>C
LRG_663:g.79541T>C
LRG_663p1:p.Leu365Pro
NC_000007.13:g.117180378T>C
NM_000492.3:c.1094T>C

Protein change:

L365P

Links:

dbSNP: rs76727851

NCBI 1000 Genomes Browser:

rs76727851

Molecular consequence:

NM_000492.4:c.1094T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000678879	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000797386	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 26, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002735141	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 7, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678879

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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

SCV000797386

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jan 26, 2018)

unknown

clinical testing

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

Citation Link,

SCV002735141

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 7, 2017)

germline

clinical testing

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

Citation Link

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.

Larriba S, Sumoy L, Ramos MD, Giménez J, Estivill X, Casals T, Nunes V.

Eur J Hum Genet. 2001 Nov;9(11):860-6.

PubMed [citation]

PMID:: 11781704

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T.

Ann Hum Genet. 2007 Mar;71(Pt 2):194-201.

PubMed [citation]

PMID:: 17331079

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678879.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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		not provided	not provided	not provided	not provided

From Counsyl, SCV000797386.1

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

From Ambry Genetics, SCV002735141.2

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

Description

The p.L365P variant (also known as c.1094T>C), located in coding exon 8 of the CFTR gene, results from a T to C substitution at nucleotide position 1094. The leucine at codon 365 is replaced by proline, an amino acid with similar properties. This variant was identified in a Spanish cystic fibrosis cohort; however, specific genotype and phenotype information were not provided (Alonso MJ et al. Ann. Hum. Genet., 2007 Mar;71:194-201). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this variant remains unclear.

#	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: May 1, 2024

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