NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 2018
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:: RCV000256080.4

Allele description [Variation Report for NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)]

NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)

Gene:

TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)

HGVS:

NC_000023.11:g.155524585G>A
NG_021318.1:g.93377C>T
NM_001184797.2:c.229C>T
NM_018196.4:c.229C>TMANE SELECT
NP_001171726.1:p.Arg77Ter
NP_060666.1:p.Arg77Ter
NC_000023.10:g.154754246G>A
NM_018196.3:c.229C>T

Protein change:

R77*; ARG77TER

Links:

OMIM: 300777.0002; dbSNP: rs781889971

NCBI 1000 Genomes Browser:

rs781889971

Molecular consequence:

NM_001184797.2:c.229C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018196.4:c.229C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322111	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322111

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 23, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000322111.6

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

Description

The R77X variant in the TMLHE gene has been reported previously in two male siblings with autism and moderate intellectual disability who had elevated 6-N-trimethyllysine, the TMLHE substrate; however, these individuals harbored additional variants in other x-linked genes that may also have contributed to the autism and intellectual disability (Nava et al., 2012). This variant may cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R77X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R77X as a variant of uncertain significance.

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

Last Updated: Sep 30, 2023

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