NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs) AND Pseudohypoaldosteronism, type IB1, autosomal recessive

Germline classification:: Likely pathogenic (1 submission)
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:: RCV004797322.1

Allele description [Variation Report for NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)]

NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)

HGVS:

NC_000012.12:g.6362126AG[1]
NG_011945.2:g.20229CT[1]
NG_125019.1:g.126AG[1]
NM_001038.6:c.799_800delMANE SELECT
NM_001159575.2:c.868_869del
NM_001159576.2:c.976_977del
NP_001029.1:p.Leu267fs
NP_001153047.1:p.Leu290fs
NP_001153048.1:p.Leu326fs
NC_000012.11:g.6471292AG[1]

Protein change:

L267fs

Molecular consequence:

NM_001038.6:c.799_800del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159575.2:c.868_869del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159576.2:c.976_977del - 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
SCV005415895	Juno Genomics, Hangzhou Juno Genomics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	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

SCV005415895

Juno Genomics, Hangzhou Juno Genomics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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	yes	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 Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005415895.1

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

Description

PM2_Supporting+PVS1

#	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: Dec 7, 2024

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