NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) AND Deficiency of guanidinoacetate methyltransferase

Clinical significance:Uncertain significance (Last evaluated: May 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001123245.1

Allele description [Variation Report for NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)]

NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)

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.670G>A (p.Ala224Thr)
Other names:
p.A224T:GCC>ACC
HGVS:
  • NC_000019.10:g.1397400C>T
  • NG_008283.1:g.18517C>T
  • NG_009785.1:g.9154G>A
  • NM_000156.6:c.670G>AMANE SELECT
  • NP_000147.1:p.Ala224Thr
  • NC_000019.9:g.1397399C>T
  • NM_000156.4:c.670G>A
  • NM_000156.5:c.670G>A
  • NM_138924.1:c.*1276G>A
  • Q14353:p.Ala224Thr
Protein change:
A224T
Links:
UniProtKB: Q14353#VAR_075303; dbSNP: rs141471799
NCBI 1000 Genomes Browser:
rs141471799
Molecular consequence:
  • NM_000156.6:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of guanidinoacetate methyltransferase (CCDS2)
Synonyms:
CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Identifiers:
MONDO: MONDO:0012999; MedGen: C0574080; Orphanet: 382; OMIM: 612736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001282064Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(May 9, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Mercimek-Mahmutoglu S, Pop A, Kanhai W, Fernandez Ojeda M, Holwerda U, Smith D, Loeber JG, Schielen PC, Salomons GS.

Gene. 2016 Jan 1;575(1):127-31. doi: 10.1016/j.gene.2015.08.045. Epub 2015 Aug 28.

PubMed [citation]
PMID:
26319512

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001282064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2021

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