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NM_000156.6(GAMT):c.68C>T (p.Ala23Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 2013
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:
RCV000187584.1

Allele description [Variation Report for NM_000156.6(GAMT):c.68C>T (p.Ala23Val)]

NM_000156.6(GAMT):c.68C>T (p.Ala23Val)

Genes:
LOC130062945:ATAC-STARR-seq lymphoblastoid silent region 9707 [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.68C>T (p.Ala23Val)
Other names:
p.A23V:GCG>GTG
HGVS:
  • NC_000019.10:g.1401409G>A
  • NG_009785.1:g.5145C>T
  • NM_000156.6:c.68C>TMANE SELECT
  • NM_138924.3:c.68C>T
  • NP_000147.1:p.Ala23Val
  • NP_620279.1:p.Ala23Val
  • NC_000019.9:g.1401408G>A
  • NM_000156.4:c.68C>T
Protein change:
A23V
Links:
dbSNP: rs796052530
NCBI 1000 Genomes Browser:
rs796052530
Molecular consequence:
  • NM_000156.6:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241178GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 18, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241178.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Ala23Val (GCG>GTG): c.68 C>T in exon 1 of the GAMT gene (NM_000156.4) The Ala23Val missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Ala23Val is a conservative amino acid substitution as Alanine and Valine are both uncharged, non-polar residues; however, the variant occurs at a position that is conserved across species. In addition, in silico algorithms predict that Ala23Val is damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Ala23Val is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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

Last Updated: Sep 29, 2024