NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 30, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000723483.3

Allele description [Variation Report for NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)]

NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
HGVS:
  • NC_000009.12:g.34648864_34648866inv
  • NG_009029.2:g.7276_7278inv
  • NG_028966.1:g.1680_1682inv
  • NM_000155.4:c.790_792invMANE SELECT
  • NM_001258332.2:c.463_465inv
  • NP_000146.2:p.Leu264Ter
  • NP_001245261.1:p.Leu155Ter
  • M60091.1:c.[790delC;792_793insG]
  • NC_000009.11:g.34648861_34648863inv
  • NG_009029.1:g.7227_7229delCTAinsTAG
  • NM_000155.2:c.790_792delCTAinsTAG
  • NM_000155.2:c.790_792delinsTAG
  • NM_000155.3:c.790_792delinsTAG
  • NM_000155.3:c.790_792invCTA
  • M60091.1:c.[790delC;792_793insG]
Protein change:
L155*
Molecular consequence:
  • NM_000155.4:c.790_792inv - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258332.2:c.463_465inv - nonsense - [Sequence Ontology: SO:0001587]
Observations:
7

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110074EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Apr 19, 2013)
germlineclinical testing

Citation Link,

SCV001783165GeneDxcriteria provided, single submitter
Pathogenic
(Jun 30, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown7not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110074.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

From GeneDx, SCV001783165.1

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

Description

Observed in apparent homozygous state in a patient with a confirmed diagnosis of classic galactosemia (Elsas et al., 1998); Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 11261429, 30718057, 11754113, 10408771)

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

Last Updated: Nov 27, 2021

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