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NM_000156.6(GAMT):c.570+4C>T AND Deficiency of guanidinoacetate methyltransferase

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 10, 2021
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:
RCV001272269.2

Allele description [Variation Report for NM_000156.6(GAMT):c.570+4C>T]

NM_000156.6(GAMT):c.570+4C>T

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.570+4C>T
HGVS:
  • NC_000019.10:g.1398912G>A
  • NG_009785.1:g.7642C>T
  • NM_000156.6:c.570+4C>TMANE SELECT
  • NM_138924.3:c.574C>T
  • NP_620279.1:p.Arg192Cys
  • NC_000019.9:g.1398911G>A
  • NM_000156.5:c.570+4C>T
Protein change:
R192C
Links:
dbSNP: rs199967562
NCBI 1000 Genomes Browser:
rs199967562
Molecular consequence:
  • NM_000156.6:c.570+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138924.3:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001454098Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

SCV002548791New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 10, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Natera, Inc., SCV001454098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From New York Genome Center - CSER-NYCKidSeq, SCV002548791.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024