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NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2012
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:
RCV000187579.10

Allele description [Variation Report for NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)]

NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)

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.677C>T (p.Pro226Leu)
Other names:
p.P226L:CCA>CTA; NM_000156.6(GAMT):c.677C>T; p.Pro226Leu
HGVS:
  • NC_000019.10:g.1397393G>A
  • NG_008283.1:g.18510G>A
  • NG_009785.1:g.9161C>T
  • NM_000156.6:c.677C>TMANE SELECT
  • NP_000147.1:p.Pro226Leu
  • NC_000019.9:g.1397392G>A
  • NM_000156.4:c.677C>T
  • NM_138924.1:c.*1283C>T
Protein change:
P226L
Links:
dbSNP: rs796052528
NCBI 1000 Genomes Browser:
rs796052528
Molecular consequence:
  • NM_000156.6:c.677C>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
SCV000241173GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 14, 2012) 		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, SCV000241173.11

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

Description

p.Pro226Leu (CCA>CTA): c.677 C>T in exon 6 of the GAMT gene (NM_000156.4) The Pro226Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Pro226Leu in approximately 5,000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Although both Proline and Leucine are uncharged, non-polar amino acids, the loss of a bulky Proline residue may alter the secondary structure of the protein. However, Pro226Leu alters a position that is not highly conserved in the GAMT protein or in related proteins. Several in silico models predict that Pro226Leu may be benign, while another suggests this variant may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Pro226Leu 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 16, 2024