NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) AND KMT2C-related NDD

Germline classification:: Pathogenic (1 submission)
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:: RCV004730871.1

Allele description [Variation Report for NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)]

NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)

Gene:

KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)

Other names:

NM_170606.2:c.4441C>T(p.Arg1481Ter)

HGVS:

NC_000007.14:g.152194506G>A
NG_033948.1:g.246500C>T
NM_170606.3:c.4441C>TMANE SELECT
NP_733751.2:p.Arg1481Ter
NC_000007.13:g.151891591G>A
NM_170606.2:c.4441C>T

Protein change:

R1481*; ARG1481TER

Links:

OMIM: 606833.0001; dbSNP: rs587777073

NCBI 1000 Genomes Browser:

rs587777073

Molecular consequence:

NM_170606.3:c.4441C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: KMT2C-related NDD
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005044911	Laboratory of Genetics, Children's Clinical University Hospital Latvia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 39013459

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044911

Laboratory of Genetics, Children's Clinical University Hospital Latvia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

research

PubMed (2)
[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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, et al.

Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15.

PubMed [citation]

PMID:: 39013459
PMCID:: PMC11339626

Details of each submission

From Laboratory of Genetics, Children's Clinical University Hospital Latvia, SCV005044911.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: Oct 8, 2024

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