NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 2017
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:: RCV000622702.3

Allele description [Variation Report for NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)]

NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)

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.3218G>A (p.Gly1073Asp)

HGVS:

NC_000003.12:g.165021265C>T
NG_017043.1:g.62231G>A
NM_001041.4:c.3218G>AMANE SELECT
NP_001032.2:p.Gly1073Asp
NC_000003.11:g.164739053C>T
NM_001041.3:c.3218G>A
P14410:p.Gly1073Asp

Protein change:

G1073D; GLY1073ASP

Links:

UniProtKB: P14410#VAR_025375; OMIM: 609845.0008; dbSNP: rs121912616

NCBI 1000 Genomes Browser:

rs121912616

Molecular consequence:

NM_001041.4:c.3218G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742924	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Oct 4, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19121318, 16329100, 23103650 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742924

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Oct 4, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/European/German/Cherokee	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.

Alfalah M, Keiser M, Leeb T, Zimmer KP, Naim HY.

Gastroenterology. 2009 Mar;136(3):883-92. doi: 10.1053/j.gastro.2008.11.038. Epub 2008 Nov 19.

PubMed [citation]

PMID:: 19121318

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

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000742924.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/European/German/Cherokee	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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