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NM_000155.4(GALT):c.*8G>A AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 28, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000506085.10

Allele description [Variation Report for NM_000155.4(GALT):c.*8G>A]

NM_000155.4(GALT):c.*8G>A

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.*8G>A
HGVS:
  • NC_000009.12:g.34650457G>A
  • NG_009029.2:g.8869G>A
  • NG_028966.1:g.3273G>A
  • NM_000155.4:c.*8G>AMANE SELECT
  • NM_001258332.2:c.*8G>A
  • NC_000009.11:g.34650454G>A
  • NM_000155.2:c.*8G>A
  • NM_000155.3:c.*8G>A
  • NM_001258332.1:c.*8G>A
Links:
dbSNP: rs370285476
NCBI 1000 Genomes Browser:
rs370285476
Molecular consequence:
  • NM_000155.4:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001258332.2:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603801ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Uncertain significance
(Mar 7, 2017)
germlineclinical testing

Citation Link,

SCV000695681Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(May 28, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603801.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695681.2

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

Description

Variant summary: GALT c.*8G>A is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.00069 in 251154 control chromosomes, predominantly within the Latino subpopulation at a frequency of 0.0022 in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in GALT causing Galactosemia (0.0022 vs. 0.0029), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.*8G>A in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 16, 2024