NM_015335.5(MED13L):c.1405dup (p.Thr469fs) AND Transposition of the great arteries, dextro-looped

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2020
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:: RCV001383794.6

Allele description [Variation Report for NM_015335.5(MED13L):c.1405dup (p.Thr469fs)]

NM_015335.5(MED13L):c.1405dup (p.Thr469fs)

Gene:

MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q24.21

Genomic location:

Preferred name:

NM_015335.5(MED13L):c.1405dup (p.Thr469fs)

HGVS:

NC_000012.12:g.116009011dup
NG_023366.1:g.273179dup
NM_015335.5:c.1405dupMANE SELECT
NP_056150.1:p.Thr469fs
NC_000012.11:g.116446812_116446813insT
NC_000012.11:g.116446816dup

Protein change:

T469fs

Links:

dbSNP: rs2137386388

NCBI 1000 Genomes Browser:

rs2137386388

Molecular consequence:

NM_015335.5:c.1405dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Transposition of the great arteries, dextro-looped (DTGA)
Identifiers:: MONDO: MONDO:0012128; MedGen: C1837341; Orphanet: 860; OMIM: 608808

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001583061	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 13, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25712080, 25758992, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001583061

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 13, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.

PubMed [citation]

PMID:: 25712080
PMCID:: PMC4613466

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, et al.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

PubMed [citation]

PMID:: 25758992
PMCID:: PMC4592099

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583061.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Thr469Asnfs*22) in the MED13L gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MED13L-related conditions. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 25712080, 25758992). For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 16, 2025

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