NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) AND Pseudohypoaldosteronism, type IB1, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1999
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:: RCV000009847.6

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:: Pseudohypoaldosteronism, type IB1, autosomal recessive
Synonyms:: Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA I, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism, Type I, Recessive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009917; MedGen: C5774176; Orphanet: 171876; Orphanet: 756; OMIM: 264350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030068	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	Schaedel, C., Marthinsen, L., Kristoffersson, A.-C., Kornfalt, R., Nilsson, K. O., Orlenius, B., Holmberg, L. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J. Pediat. 135: 739-745, 1999.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030068

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

Schaedel, C., Marthinsen, L., Kristoffersson, A.-C., Kornfalt, R., Nilsson, K. O., Orlenius, B., Holmberg, L. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J. Pediat. 135: 739-745, 1999.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000030068.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In 4 Swedish patients, including 2 sibs, from 3 unrelated families with pseudohypoaldosteronism type I (PHA1B1; 264350), Schaedel et al. (1999) identified a c.1449delC mutation in exon 10 of the SCNN1A gene. The mutation was present in homozygous state in the patient in family 1. The sibs in family 2 were compound heterozygous with a c.729delA mutation (600228.0004) in exon 4 on the other allele. The patient in family 3 was compound heterozygous with a c.1685C-T transition on the other allele, resulting in a ser562-to-leu (S562L) substitution. The c.1449delC mutation seemed to be the predominant cause of pseudohypoaldosteronism in Sweden.

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

Last Updated: Apr 12, 2026

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