NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) AND Combined oxidative phosphorylation defect type 17

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 10, 2023
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:: RCV002047720.4

Allele description [Variation Report for NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)]

NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)

Gene:

ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)

HGVS:

NC_000017.11:g.12992865G>A
NG_015808.1:g.30200C>T
NM_001165962.2:c.2314C>T
NM_018127.7:c.2434C>TMANE SELECT
NM_173717.2:c.2431C>T
NP_001159434.1:p.Arg772Trp
NP_060597.4:p.Arg812Trp
NP_776065.1:p.Arg811Trp
NC_000017.10:g.12896182G>A
NM_018127.6:c.2434C>T

Protein change:

R772W

Links:

dbSNP: rs767611235

NCBI 1000 Genomes Browser:

rs767611235

Molecular consequence:

NM_001165962.2:c.2314C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018127.7:c.2434C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_173717.2:c.2431C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Combined oxidative phosphorylation defect type 17
Synonyms:: Combined oxidative phosphorylation deficiency 17
Identifiers:: MONDO: MONDO:0014190; MedGen: C3809526; Orphanet: 369913; OMIM: 615440

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002289541	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002289541

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 10, 2023)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002289541.3

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

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 812 of the ELAC2 protein (p.Arg812Trp). This variant is present in population databases (rs767611235, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1504125). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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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