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NM_001041.4(SI):c.4094dup (p.Phe1366fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2023
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:
RCV003709984.3

Allele description [Variation Report for NM_001041.4(SI):c.4094dup (p.Phe1366fs)]

NM_001041.4(SI):c.4094dup (p.Phe1366fs)

Gene:
SI:sucrase-isomaltase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_001041.4(SI):c.4094dup (p.Phe1366fs)
HGVS:
  • NC_000003.12:g.165009366dup
  • NG_017043.1:g.74132dup
  • NM_001041.4:c.4094dupMANE SELECT
  • NP_001032.2:p.Phe1366fs
  • NC_000003.11:g.164727151_164727152insA
  • NC_000003.11:g.164727154dup
Protein change:
F1366fs
Links:
dbSNP: rs1718661487
NCBI 1000 Genomes Browser:
rs1718661487
Molecular consequence:
  • NM_001041.4:c.4094dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004475403Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 17, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.

Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovács JB, Leeb T, Naim HY.

Hum Mutat. 2006 Jan;27(1):119.

PubMed [citation]
PMID:
16329100

Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

Uhrich S, Wu Z, Huang JY, Scott CR.

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5. No abstract available.

PubMed [citation]
PMID:
23103650
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004475403.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe1366Leufs*19) in the SI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SI are known to be pathogenic (PMID: 16329100, 23103650, 25452324). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SI-related conditions.

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

Last Updated: May 16, 2025