NM_153717.3(EVC):c.1744C>G (p.Leu582Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2024
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:: RCV004701598.1

Allele description [Variation Report for NM_153717.3(EVC):c.1744C>G (p.Leu582Val)]

NM_153717.3(EVC):c.1744C>G (p.Leu582Val)

Gene:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.1744C>G (p.Leu582Val)

HGVS:

NC_000004.12:g.5783732C>G
NG_008843.1:g.77536C>G
NM_001306090.2:c.1744C>G
NM_153717.3:c.1744C>GMANE SELECT
NP_001293019.1:p.Leu582Val
NP_714928.1:p.Leu582Val
NC_000004.11:g.5785459C>G
NM_153717.2:c.1744C>G

Protein change:

L582V

Links:

dbSNP: rs367863826

NCBI 1000 Genomes Browser:

rs367863826

Molecular consequence:

NM_001306090.2:c.1744C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153717.3:c.1744C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005205182	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jun 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005205182

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jun 17, 2024)

germline

clinical testing

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005205182.1

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

Description

Variant summary: EVC c.1744C>G (p.Leu582Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00015 in 249558 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in EVC causing Ellis-van Creveld syndrome, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1744C>G in individuals affected with Ellis-van Creveld syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 452104). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 29, 2024

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