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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 2017
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:: RCV000523262.1

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:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000620881	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Sep 25, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000620881

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Sep 25, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000620881.1

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

Description

The L582V variant in the EVC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L582V variant is observed in 18/57370 (0.03%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The L582V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L582V as a variant of uncertain significance.

#	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

Last Updated: Sep 29, 2024

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