NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 14, 2019
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:: RCV000505717.6

Allele description [Variation Report for NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro)]

NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.701A>C (p.Gln234Pro)

HGVS:

NC_000011.10:g.2572030A>C
NG_008935.1:g.132040A>C
NM_000218.3:c.701A>CMANE SELECT
NM_001406836.1:c.701A>C
NM_001406837.1:c.431A>C
NM_181798.2:c.320A>C
NP_000209.2:p.Gln234Pro
NP_000209.2:p.Gln234Pro
NP_001393765.1:p.Gln234Pro
NP_001393766.1:p.Gln144Pro
NP_861463.1:p.Gln107Pro
NP_861463.1:p.Gln107Pro
LRG_287t1:c.701A>C
LRG_287t2:c.320A>C
LRG_287:g.132040A>C
LRG_287p1:p.Gln234Pro
LRG_287p2:p.Gln107Pro
NC_000011.9:g.2593260A>C
NM_000218.2:c.701A>C
NM_181798.1:c.320A>C
NR_040711.2:n.594A>C

Protein change:

Q107P

Links:

dbSNP: rs794728570

NCBI 1000 Genomes Browser:

rs794728570

Molecular consequence:

NM_000218.3:c.701A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406836.1:c.701A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406837.1:c.431A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.2:c.320A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234606	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 14, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234606

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 14, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000234606.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies suggest a damaging effect on channel function (Huang et al., 2018; Vanoye et al., 2018); This variant is associated with the following publications: (PMID: 27920829, 29532034, 30571187)

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

Last Updated: Mar 26, 2023

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