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NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr) AND Sucrase-isomaltase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001481.5

Allele description [Variation Report for NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)]

NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)

Gene:
SI:sucrase-isomaltase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)
HGVS:
  • NC_000003.12:g.165017621C>T
  • NG_017043.1:g.65875G>A
  • NM_001041.4:c.3686G>AMANE SELECT
  • NP_001032.2:p.Cys1229Tyr
  • NC_000003.11:g.164735409C>T
  • P14410:p.Cys1229Tyr
Protein change:
C1229Y; CYS1229TYR
Links:
UniProtKB: P14410#VAR_025376; OMIM: 609845.0005; dbSNP: rs121912614
NCBI 1000 Genomes Browser:
rs121912614
Molecular consequence:
  • NM_001041.4:c.3686G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sucrase-isomaltase deficiency (CSID)
Synonyms:
Congenital sucrose-isomaltase malabsorption; Disaccharide intolerance, 1; Sucrose intolerance congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009114; MedGen: C1283620; Orphanet: 35122; OMIM: 222900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021636OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2006) 		germlineliterature only

Sander, P., Alfalah, M., Keiser, M., Korponay-Szabo, I., Kovacs, J. B., Leeb, T., Naim, H. Y. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum. Mutat. 27: 119-only, 2006.

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000021636.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

Sander et al. (2006) described 2 Hungarian sibs who were initially diagnosed with congenital sucrase-isomaltase deficiency (CSID; 222900); however, 1 of the sibs recovered well from the initial clinical symptoms and the symptoms vanished entirely with age. The patient who recovered had a cys1229-to-tyr (C1229Y) mutation on 1 allele of the SI gene, whereas the other sib was compound heterozygous for this allele and one with a phe1745-to-cys mutation (609845.0006). Sander et al. (2006) concluded that the sib with mild symptoms had the effect of haploinsufficiency of the SI gene while retaining 1 functional copy of the gene. The C1229Y substitution arose from a 3686G-A transition.

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

Last Updated: Sep 1, 2024