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NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 19, 2020
Accession:
VCV000253246.3
Variation ID:
253246
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)

Allele ID
247658
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17216427 (GRCh38) GRCh38 UCSC
17: 17119741 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.25762T>C
LRG_325t1:c.1253T>C
NC_000017.10:g.17119741A>G
... more HGVS
Protein change
L418P, L436P
Other names
-
Canonical SPDI
NC_000017.11:17216426:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10586257
dbSNP: rs879255674
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 19, 2020 RCV000239663.2
Uncertain significance 1 criteria provided, single submitter May 15, 2017 RCV000493637.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLCN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1159 1275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 18, 2016)
criteria provided, single submitter
()
Method: clinical testing
Birt-Hogg-Dube Syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000298074.1
Submitted: (Aug 10, 2016)
Comment:
Clinical Testing
Evidence details
Uncertain significance
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582854.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The L418P variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to … (more)
Uncertain significance
(Sep 19, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV001512354.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces leucine with proline at codon 418 of the FLCN protein (p.Leu418Pro). The leucine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs879255674...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021