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NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe) AND Neonatal diabetes mellitus with congenital hypothyroidism

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2021
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:
RCV002468482.1

Allele description [Variation Report for NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)]

NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)

Gene:
GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.2
Genomic location:
Preferred name:
NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)
HGVS:
  • NC_000009.12:g.4118769G>A
  • NG_011782.2:g.186267C>T
  • NG_011782.3:g.376696C>T
  • NM_001042413.2:c.709C>TMANE SELECT
  • NM_152629.4:c.244C>T
  • NP_001035878.1:p.Leu237Phe
  • NP_689842.3:p.Leu82Phe
  • NC_000009.11:g.4118769G>A
Protein change:
L237F
Molecular consequence:
  • NM_001042413.2:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152629.4:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neonatal diabetes mellitus with congenital hypothyroidism
Synonyms:
NDH SYNDROME
Identifiers:
MONDO: MONDO:0012436; MedGen: C1857775; Orphanet: 79118; OMIM: 610199

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764376New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Oct 13, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV002764376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2022