NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 26, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001827479.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)]

NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)

Gene:

LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)

HGVS:

NC_000002.12:g.43946182T>C
NG_008247.1:g.54824A>G
NM_133259.4:c.2141A>GMANE SELECT
NP_573566.2:p.Tyr714Cys
NC_000002.11:g.44173321T>C
NM_133259.3:c.2141A>G

Protein change:

Y714C

Links:

dbSNP: rs375559765

NCBI 1000 Genomes Browser:

rs375559765

Molecular consequence:

NM_133259.4:c.2141A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (MC4DN5)
Synonyms:: Leigh syndrome, French Canadian type; Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009069; MedGen: C1857355; Orphanet: 70472; OMIM: 220111

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002076561	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jul 26, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002076561

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jul 26, 2020)

germline

clinical testing

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 Natera, Inc., SCV002076561.1

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

#	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 19, 2024

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