NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) AND Incidental Discovery

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2025
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:: RCV005428991.1

Allele description [Variation Report for NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)]

NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)

Gene:

SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)

HGVS:

NC_000012.12:g.6349212del
NG_011945.2:g.33146del
NM_001038.6:c.1449delMANE SELECT
NM_001159575.2:c.1518del
NM_001159576.2:c.1626del
NP_001029.1:p.Tyr484fs
NP_001153047.1:p.Tyr507fs
NP_001153048.1:p.Tyr543fs
NC_000012.11:g.6458378del
NM_001038.5:c.1449delC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

Y484fs

Links:

OMIM: 600228.0003; dbSNP: rs756434927

Molecular consequence:

NM_001038.6:c.1449del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159575.2:c.1518del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159576.2:c.1626del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Incidental Discovery
Identifiers:: MedGen: C1135954

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006099545	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 23, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006099545

Clinical Genetics Laboratory, Skane University Hospital Lund

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 23, 2025)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV006099545.1

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

Description

ACMG criteria used: PVS1, PM2, PM3_Strong.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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