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NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Dec 5, 2017
Accession:
VCV000429874.2
Variation ID:
429874
Description:
single nucleotide variant
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NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser)

Allele ID
422247
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.3
Genomic location
19: 1398983 (GRCh38) GRCh38 UCSC
19: 1398982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.1398983T>G
NC_000019.9:g.1398982T>G
NM_000156.6:c.503A>C MANE Select NP_000147.1:p.Tyr168Ser missense
... more HGVS
Protein change
Y168S
Other names
-
Canonical SPDI
NC_000019.10:1398982:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA402994540
dbSNP: rs1131691644
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 5, 2017 RCV000493155.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAMT - - GRCh38
GRCh37
335 379

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 05, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883935.1
Submitted: (Oct 10, 2018)
Evidence details
Pathogenic
(Oct 13, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582547.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Y168S pathogenic variant in the GAMT gene has been previously reported in the homozygous state in an individual with phenotypic and biochemical evidence of … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1131691644...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Feb 27, 2021