NM_000156.6(GAMT):c.437C>G (p.Thr146Arg) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 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:: RCV001256148.2

Allele description [Variation Report for NM_000156.6(GAMT):c.437C>G (p.Thr146Arg)]

NM_000156.6(GAMT):c.437C>G (p.Thr146Arg)

Gene:

GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000156.6(GAMT):c.437C>G (p.Thr146Arg)

HGVS:

NC_000019.10:g.1399150G>C
NG_009785.1:g.7404C>G
NM_000156.6:c.437C>GMANE SELECT
NM_138924.3:c.437C>G
NP_000147.1:p.Thr146Arg
NP_620279.1:p.Thr146Arg
NC_000019.9:g.1399149G>C
NM_138924.2:c.437C>G

Protein change:

T146R

Links:

dbSNP: rs149821870

NCBI 1000 Genomes Browser:

rs149821870

Molecular consequence:

NM_000156.6:c.437C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138924.3:c.437C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432936	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Mar 13, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432936

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Mar 13, 2020)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001432936.1

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

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

Last Updated: Sep 30, 2023

ClinVar

Relating variation to medicine