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NM_005061.3(RPL3L):c.1202C>T (p.Pro401Leu) AND Cardiomyopathy, dilated, 2D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 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:
RCV003985070.1

Allele description [Variation Report for NM_005061.3(RPL3L):c.1202C>T (p.Pro401Leu)]

NM_005061.3(RPL3L):c.1202C>T (p.Pro401Leu)

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.1202C>T (p.Pro401Leu)
HGVS:
  • NC_000016.10:g.1944859G>A
  • NM_005061.3:c.1202C>TMANE SELECT
  • NP_005052.1:p.Pro401Leu
  • NC_000016.9:g.1994860G>A
Protein change:
P401L
Molecular consequence:
  • NM_005061.3:c.1202C>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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801379Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Feb 20, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004801379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 23, 2024