NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp) AND Cardiomyopathy, dilated, 2D

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 6, 2021
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:: RCV001507082.2

Allele description [Variation Report for NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)]

NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)

Gene:

RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)

HGVS:

NC_000016.10:g.1950864G>A
NM_005061.3:c.481C>TMANE SELECT
NP_005052.1:p.Arg161Trp
NC_000016.9:g.2000865G>A

Protein change:

R161W; ARG161TRP

Links:

OMIM: 617416.0006; dbSNP: rs143544112

NCBI 1000 Genomes Browser:

rs143544112

Molecular consequence:

NM_005061.3:c.481C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy, dilated, 2D
Identifiers:: MONDO: MONDO:0030300; MedGen: C5543535; OMIM: 619371

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001712057	OMIM	no assertion criteria provided	Pathogenic (Jun 6, 2021)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712057

OMIM

no assertion criteria provided

Pathogenic
(Jun 6, 2021)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, et al.

Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8.

PubMed [citation]

PMID:: 32514796
PMCID:: PMC7519902

Details of each submission

From OMIM, SCV001712057.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.481C-T transition (chr16.2,000,865, GRCh37) in the RPL3L gene, resulting in an arg161-to-trp (R161W) substitution, that was found in compound heterozygous state in a Spanish sister and brother (family 3) with severe neonatal-onset dilated cardiomyopathy (CMD2D; 619371) by Ganapathi et al. (2020), see 617416.0005.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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