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NM_000156.6(GAMT):c.529C>G (p.Leu177Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2018
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:
RCV000658429.1

Allele description [Variation Report for NM_000156.6(GAMT):c.529C>G (p.Leu177Val)]

NM_000156.6(GAMT):c.529C>G (p.Leu177Val)

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.529C>G (p.Leu177Val)
HGVS:
  • NC_000019.10:g.1398957G>C
  • NG_009785.1:g.7597C>G
  • NM_000156.6:c.529C>GMANE SELECT
  • NM_138924.3:c.529C>G
  • NP_000147.1:p.Leu177Val
  • NP_620279.1:p.Leu177Val
  • NC_000019.9:g.1398956G>C
  • NM_000156.4:c.529C>G
Protein change:
L177V
Links:
dbSNP: rs750356640
NCBI 1000 Genomes Browser:
rs750356640
Molecular consequence:
  • NM_000156.6:c.529C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.529C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000780201GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 4, 2018) 		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, SCV000780201.2

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

Description

The L177V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L177V variant is not observed in large population cohorts (Lek et al., 2016). The L177V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant

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

Last Updated: Apr 23, 2022